ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1324-9A>G rs2107137679
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1870+1G>C rs780859898
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr) rs267606981
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) rs2107158284
NM_000313.4(PROS1):c.76+2_76+3del rs2107279030
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser) rs121918473
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
PROS1, IVS10DS, G-A, +5

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