ClinVar Miner

List of variants reported as likely benign for blood coagulation disease by Clingen Thrombosis Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.-57G>A rs372524963 0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser) rs200861147 0.00006
NM_000488.4(SERPINC1):c.1154-5T>C rs375346550 0.00005
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=) rs559277597 0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000488.4(SERPINC1):c.1218+7A>G rs899914657 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000488.4(SERPINC1):c.881G>A (p.Arg294His) rs587776397 0.00001
NM_000488.4(SERPINC1):c.1350C>T (p.Asn450=)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.51T>C (p.Tyr17=) rs2102790373
NM_000488.4(SERPINC1):c.553A>G (p.Thr185Ala) rs574547491

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