ClinVar Miner

List of variants in gene PROS1 reported as likely pathogenic for Thrombophilia due to protein S deficiency, autosomal dominant

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) rs753603433 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) rs2107137626
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg) rs2107202922
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val) rs2107124949
NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser) rs2107120174
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.346+1G>T
NM_000313.4(PROS1):c.346+2T>A
NM_000313.4(PROS1):c.447G>T (p.Trp149Cys)
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg) rs2107170811
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) rs1576182848
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)

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