ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp) rs121918476 0.00003
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.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NC_000003.11:g.(?_93595790)_(93596055_?)del
NC_000003.11:g.(?_93597987)_(93598178_?)del
NC_000003.11:g.(?_93605147)_(93617433_?)del
NC_000003.11:g.(?_93615400)_(93617433_?)del
NC_000003.11:g.(?_93629453)_(93692783_?)del
NC_000003.12:g.(?_93879163)_(93879314_?)del
NC_000003.12:g.(?_93924230)_(93973939_?)del
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter) rs1559931820
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) rs1708453639
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
NM_000313.4(PROS1):c.1644G>A (p.Gln548=)
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter) rs2107202868
NM_000313.4(PROS1):c.1871-1G>A rs2107120223
NM_000313.4(PROS1):c.1871-2A>G rs2107120227
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) rs1708152510
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del) rs1709033502
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
NM_000313.4(PROS1):c.1991dup (p.His664fs) rs1553808038
NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter) rs1559926604
NM_000313.4(PROS1):c.1A>C (p.Met1Leu) rs2107279275
NM_000313.4(PROS1):c.1A>G (p.Met1Val)
NM_000313.4(PROS1):c.252del (p.Lys84fs) rs1241365457
NM_000313.4(PROS1):c.3G>C (p.Met1Ile) rs1403076049
NM_000313.4(PROS1):c.470-2A>T rs1708668246
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) rs1708666412
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000313.4(PROS1):c.708del (p.Lys237fs)
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
NM_000313.4(PROS1):c.77-2A>G
NM_000313.4(PROS1):c.793dup (p.Cys265fs) rs2107158205
NM_000313.4(PROS1):c.820A>T (p.Lys274Ter) rs1708536031
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter) rs554787241
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) rs863224838
PROS1, 1-BP INS, 146A
PROS1, ARG410TER

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