ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Clingen Thrombosis Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) rs1487411568 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) rs121909554
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs) rs1572090305
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro)
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494

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