ClinVar Miner

List of variants studied for hemophilia A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.192_193del (p.Tyr65fs)
NM_000132.4(F8):c.265+4A>G
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6518C>G (p.Thr2173Ser)

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