ClinVar Miner

List of variants in gene SERPINC1 reported as benign for hereditary antithrombin deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=) rs5878 0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=) rs5877 0.48114
NM_000488.4(SERPINC1):c.1154-53G>A rs2759328 0.09559
NM_000488.4(SERPINC1):c.1218+27G>C rs677 0.09086
NM_000488.4(SERPINC1):c.42-18C>T rs2227599 0.02503
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=) rs2227627 0.00045
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000488.4(SERPINC1):c.763-16T>C rs145418597 0.00026
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.914C>A (p.Pro305His) rs549991084 0.00001
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.409-12dup rs201656611
NM_000488.4(SERPINC1):c.693C>G (p.Thr231=) rs140452859
NM_000488.4(SERPINC1):c.693C>T (p.Thr231=) rs140452859
NM_000488.4(SERPINC1):c.873T>C (p.Arg291=)

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