ClinVar Miner

List of variants reported as uncertain significance 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: 17
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_000488.3(SERPINC1):c.-88G>A rs376206880 0.00005
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg) rs773254902 0.00003
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln) rs774294043 0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr) rs1445653081 0.00001
NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)
NM_000488.4(SERPINC1):c.1219-8A>G
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)
NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)
NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)
NM_000488.4(SERPINC1):c.391C>G (p.Leu131Val)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)

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