ClinVar Miner

List of variants studied for blood coagulation disease by New York Genome Center

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_000892.5(KLKB1):c.-2+1G>C rs954965096

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