ClinVar Miner

List of variants reported as likely pathogenic for protein S deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000313.4(PROS1):c.353C>T (p.Pro118Leu) rs761574063 0.00003
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.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) rs753603433 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000313.4(PROS1):c.470A>G (p.Asp157Gly) rs751090951 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 0.00001
NC_000003.11:g.(?_93646084)_(93647651_?)dup
NC_000003.12:g.93879713_93906171del
NM_000313.3(PROS1):c.-168C>T rs199469484
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1085A>G (p.Gln362Arg)
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) rs1437372036
NM_000313.4(PROS1):c.1155+2T>C
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1284del (p.Gly429fs) rs1576176794
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) rs2107137626
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter) rs267599946
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.1514del (p.Gly505fs) rs1576173175
NM_000313.4(PROS1):c.1543C>T (p.Arg515Cys) rs199469500
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
NM_000313.4(PROS1):c.154G>C (p.Gly52Arg) rs2107202922
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu) rs1380889353
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.2000_2001inv (p.Pro667Leu)
NM_000313.4(PROS1):c.215T>C (p.Phe72Ser)
NM_000313.4(PROS1):c.235-1G>A rs1708985469
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.344_346+7del
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.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.595T>C (p.Cys199Arg) rs2107170811
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000313.4(PROS1):c.727+1G>A rs1332591784
NM_000313.4(PROS1):c.728-1G>A rs368074804
NM_000313.4(PROS1):c.728-1G>T
NM_000313.4(PROS1):c.76+1G>A rs2107279041
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) rs1576182848
NM_000313.4(PROS1):c.769_770del (p.Val257fs)
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000313.4(PROS1):c.832G>T (p.Asp278Tyr)
NM_000313.4(PROS1):c.849+2T>G
NM_000313.4(PROS1):c.913C>T (p.Gln305Ter) rs1395378093
NM_000313.4(PROS1):c.970T>C (p.Ser324Pro) rs1576180280
Single allele

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