Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000518.5:c.17_18del | 17 | 0.021 | ||
NM_000518.5:c.25_26del | 18 | 0.022 | ||
NM_000518.5:c.92+6T>C | 12 | 0.015 | ||
NM_000518.5:c.93-21_96del | 71 | 0.09 | ||
NM_000518.5:c.93-21G>A | 8 | 0.01 | ||
NM_000518.5:c.118C>T | 18 | 0.022 | ||
NM_000518.5:c.135del | 6 | 0.007 | ||
NM_000518.5:c.315+1G>A | 23 | 0.028 | ||
NM_000518.5:c.27dup | 25 | 0.03 | ||
Hb Monroe NM_000518.5:c.92G>C | 17 | 0.021 | ||
NM_000518.5:c.112del | 1 | 0.001 | ||
NM_000518.5:c.-138C>A | 9 | 0.011 | ||
NM_000518.5:c.47G>A | 7 | 0.009 | ||
NM_000518.5:c.316-3C>A | 3 | 0.004 | ||
NM_000518.5:c.-151C>T | 2 | 0.002 | ||
Hb Knossos NM_000518.5:c.82G>T | 1 | 0.001 | ||
NM_000518.5:c.92+1G>C | 367 | .445 | ||
NM_000518.5:c.251del | 8 | 0.01 | ||
NM_000518.5:c.*113A>G | 3 | 0.004 | ||
NM_000518.5:c.332T>C | 3 | 0.004 | ||
NM_000518.4:c.114G>A | 1 | 0.001 | ||
Hb D-Punjab NM_000518.5:c.364G>C | 18 | 0.022 | ||
NM_000518.4:c.79G>A | 1 | 0.001 | ||
NM_000518.4:c.92+1G>T | 7 | 0.009 | ||
NC_000011.10:g.5153222_5238138delinsTATTT | 1 | 0.01 |