ClinVar Miner

List of variants studied for hemophilia A by ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.2453C>T (p.Thr818Ile) rs142274278 0.00080
NM_000132.4(F8):c.1272-5T>C rs377416503 0.00016
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.1213A>T (p.Ile405Phe)
NM_000132.4(F8):c.1214T>C (p.Ile405Thr)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1244C>T (p.Ala415Val)
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1420G>A (p.Gly474Arg)
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4148C>G (p.Ala1383Gly)
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.6028T>C (p.Ser2010Pro)
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.7033T>C (p.Cys2345Arg)
NM_000132.4(F8):c.923C>G (p.Ser308Trp)
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407

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