ClinVar Miner

List of variants reported as likely pathogenic for Thrombophilia due to protein S deficiency, autosomal recessive

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.470A>G (p.Asp157Gly) rs751090951 0.00001
NC_000003.11:g.(?_93646084)_(93647651_?)dup
NM_000313.4(PROS1):c.1155+2T>C
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu) rs1380889353
NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)
NM_000313.4(PROS1):c.235-1G>A rs1708985469
NM_000313.4(PROS1):c.344_346+7del
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000313.4(PROS1):c.727+1G>A rs1332591784
NM_000313.4(PROS1):c.728-1G>T
NM_000313.4(PROS1):c.849+2T>G

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