ClinVar Miner

List of variants reported as uncertain significance for hereditary thrombophilia due to congenital protein S deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.234+72T>C rs115491294 0.00923
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000313.4(PROS1):c.1021G>A (p.Ala341Thr) rs189883848 0.00312
NM_000313.4(PROS1):c.*783C>T rs137965257 0.00279
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) rs73846070 0.00238
NM_000313.4(PROS1):c.*686G>A rs550909963 0.00211
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000313.4(PROS1):c.1095T>G (p.Asn365Lys) rs199469491 0.00155
NM_000313.4(PROS1):c.258A>G (p.Leu86=) rs139964194 0.00058
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala) rs142846443 0.00043
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NC_000003.12:g.93973939G>C rs149028936 0.00031
NM_000313.4(PROS1):c.-135C>T rs750502941 0.00031
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_000313.4(PROS1):c.-261C>T rs886058930 0.00029
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000313.4(PROS1):c.-48C>A rs775507528 0.00028
NM_000313.4(PROS1):c.*119T>C rs886058924 0.00026
NM_000313.4(PROS1):c.*1103A>G rs779418455 0.00024
NM_000313.4(PROS1):c.*155T>A rs534064879 0.00024
NM_000313.4(PROS1):c.469+4C>T rs200980997 0.00024
NM_000313.4(PROS1):c.*370G>A rs144135580 0.00017
NM_000313.4(PROS1):c.1324A>G (p.Ile442Val) rs768097849 0.00017
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
NM_000313.4(PROS1):c.*1046T>C rs546710591 0.00013
NM_000313.4(PROS1):c.-43G>A rs370938580 0.00013
NM_000313.4(PROS1):c.585T>C (p.Asn195=) rs372109285 0.00013
NM_000313.4(PROS1):c.1377A>G (p.Gly459=) rs371312357 0.00012
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000313.4(PROS1):c.1727A>T (p.Glu576Val) rs528604865 0.00012
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) rs142805170 0.00011
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu) rs369244777 0.00009
NM_000313.4(PROS1):c.684C>T (p.Cys228=) rs377173471 0.00009
NM_000313.4(PROS1):c.*1139C>A rs886058922 0.00008
NM_000313.4(PROS1):c.1183A>G (p.Ile395Val) rs368987511 0.00008
NM_000313.4(PROS1):c.503A>G (p.Asn168Ser) rs144430063 0.00008
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) rs769125007 0.00007
NM_000313.4(PROS1):c.1309G>A (p.Glu437Lys) rs771370692 0.00007
NM_000313.4(PROS1):c.563A>G (p.Asn188Ser) rs146070827 0.00007
NM_000313.3(PROS1):c.-187G>T rs1195211433 0.00006
NM_000313.4(PROS1):c.1323+8T>G rs778473220 0.00006
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) rs202190731 0.00006
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000313.4(PROS1):c.*550G>A rs925792694 0.00005
NM_000313.4(PROS1):c.*86T>C rs886058925 0.00005
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu) rs565325519 0.00005
NM_000313.4(PROS1):c.1324-3T>G rs200270949 0.00005
NM_000313.4(PROS1):c.1707C>T (p.Ser569=) rs566166669 0.00005
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) rs755684845 0.00005
NM_000313.4(PROS1):c.1295G>A (p.Arg432Gln) rs1320598375 0.00004
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000313.4(PROS1):c.346+5G>A rs865991206 0.00004
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.1564G>A (p.Val522Ile) rs758927346 0.00003
NM_000313.4(PROS1):c.269G>A (p.Arg90His) rs200886866 0.00003
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) rs575777099 0.00003
NM_000313.4(PROS1):c.*301A>G rs569117154 0.00002
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) rs745470312 0.00002
NM_000313.4(PROS1):c.149A>C (p.Lys50Thr) rs745579260 0.00002
NM_000313.3(PROS1):c.-167G>T rs983179502 0.00001
NM_000313.4(PROS1):c.*385A>G rs1576170245 0.00001
NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg) rs1350149739 0.00001
NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys) rs1263937066 0.00001
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.1752G>A (p.Leu584=) rs772250170 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) rs141122478 0.00001
NM_000313.4(PROS1):c.311C>A (p.Thr104Asn) rs753950548 0.00001
NM_000313.4(PROS1):c.346+15C>T rs1265949362 0.00001
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg) rs754149240 0.00001
NM_000313.4(PROS1):c.469+5G>A rs756682607 0.00001
NM_000313.4(PROS1):c.601+12A>G rs753550053 0.00001
NM_000313.4(PROS1):c.946C>T (p.Arg316Cys) rs373983977 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 0.00001
NC_000003.11:g.(?_93593089)_(93772107_?)dup
NM_000313.3(PROS1):c.*1195C>G rs1708129293
NM_000313.4(PROS1):c.*1014T>C rs1708133064
NM_000313.4(PROS1):c.*1082A>G rs1708131875
NM_000313.4(PROS1):c.*1167_*1170del rs886058921
NM_000313.4(PROS1):c.*1186C>T rs1708129465
NM_000313.4(PROS1):c.*1_*2insSVAelement
NM_000313.4(PROS1):c.*221del rs776969264
NM_000313.4(PROS1):c.*422G>T rs770100925
NM_000313.4(PROS1):c.*714T>C rs886058923
NM_000313.4(PROS1):c.*737G>C rs538937681
NM_000313.4(PROS1):c.*887C>A rs1708135152
NM_000313.4(PROS1):c.*972C>T rs538178021
NM_000313.4(PROS1):c.-116C>T rs886058929
NM_000313.4(PROS1):c.-60G>C rs368555701
NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser) rs1708455723
NM_000313.4(PROS1):c.1069G>A (p.Gly357Arg)
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1084C>A (p.Gln362Lys) rs1559931820
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) rs2107150027
NM_000313.4(PROS1):c.109G>T (p.Val37Phe)
NM_000313.4(PROS1):c.111T>C (p.Val37=) rs886058928
NM_000313.4(PROS1):c.1124G>T (p.Gly375Val)
NM_000313.4(PROS1):c.1147T>C (p.Trp383Arg) rs1708453757
NM_000313.4(PROS1):c.1153A>G (p.Met385Val)
NM_000313.4(PROS1):c.1187G>A (p.Ser396Asn)
NM_000313.4(PROS1):c.118C>T (p.Arg40Cys)
NM_000313.4(PROS1):c.119G>A (p.Arg40His) rs7614835
NM_000313.4(PROS1):c.1229C>A (p.Pro410His)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1241T>C (p.Phe414Ser)
NM_000313.4(PROS1):c.1265A>G (p.Glu422Gly)
NM_000313.4(PROS1):c.1294C>G (p.Arg432Gly)
NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)
NM_000313.4(PROS1):c.1334G>A (p.Arg445His)
NM_000313.4(PROS1):c.1345T>A (p.Cys449Ser)
NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr) rs766692725
NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1460G>A (p.Gly487Asp) rs2107137352
NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu) rs1454230372
NM_000313.4(PROS1):c.1490A>G (p.Tyr497Cys)
NM_000313.4(PROS1):c.1492+6T>G
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) rs121918472
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
NM_000313.4(PROS1):c.1565T>A (p.Val522Asp) rs2107128754
NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)
NM_000313.4(PROS1):c.1644+2_1644+3insTT rs1218619325
NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)
NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)
NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)
NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)
NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg) rs2107125076
NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser) rs2107125044
NM_000313.4(PROS1):c.1840A>G (p.Lys614Glu)
NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)
NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala) rs2107124973
NM_000313.4(PROS1):c.1856T>C (p.Leu619Pro)
NM_000313.4(PROS1):c.1871-14T>G rs754929347
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) rs1708153590
NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser) rs1708153020
NM_000313.4(PROS1):c.1907A>G (p.Tyr636Cys) rs368173480
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)
NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys) rs776022988
NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu) rs1576170554
NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)
NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu) rs886058926
NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys) rs1465989734
NM_000313.4(PROS1):c.228G>A (p.Pro76=) rs6121
NM_000313.4(PROS1):c.234G>A (p.Thr78=) rs145399944
NM_000313.4(PROS1):c.235G>T (p.Asp79Tyr)
NM_000313.4(PROS1):c.253T>G (p.Tyr85Asp)
NM_000313.4(PROS1):c.260-7T>G rs373193429
NM_000313.4(PROS1):c.265C>T (p.Leu89Phe)
NM_000313.4(PROS1):c.266T>C (p.Leu89Pro)
NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)
NM_000313.4(PROS1):c.269G>C (p.Arg90Pro) rs200886866
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.35T>A (p.Leu12Gln) rs1347697005
NM_000313.4(PROS1):c.47T>C (p.Leu16Pro) rs1709925832
NM_000313.4(PROS1):c.512G>C (p.Cys171Ser) rs1318913987
NM_000313.4(PROS1):c.538G>A (p.Gly180Arg) rs1708667113
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp) rs1708666597
NM_000313.4(PROS1):c.59C>G (p.Pro20Arg)
NM_000313.4(PROS1):c.607G>T (p.Asp203Tyr)
NM_000313.4(PROS1):c.624G>T (p.Lys208Asn) rs1207595576
NM_000313.4(PROS1):c.664G>C (p.Gly222Arg) rs1559933951
NM_000313.4(PROS1):c.676T>A (p.Cys226Ser) rs370855515
NM_000313.4(PROS1):c.677G>A (p.Cys226Tyr) rs1553810751
NM_000313.4(PROS1):c.695A>G (p.Tyr232Cys) rs754454487
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000313.4(PROS1):c.707T>G (p.Leu236Arg)
NM_000313.4(PROS1):c.710A>C (p.Lys237Thr) rs558211174
NM_000313.4(PROS1):c.718T>C (p.Ser240Pro)
NM_000313.4(PROS1):c.728-12T>C rs775011352
NM_000313.4(PROS1):c.797A>G (p.Tyr266Cys)
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
NM_000313.4(PROS1):c.805G>A (p.Gly269Arg) rs886058927
NM_000313.4(PROS1):c.815G>A (p.Gly272Glu)
NM_000313.4(PROS1):c.905T>G (p.Leu302Trp)
NM_000313.4(PROS1):c.963C>T (p.Ser321=)
NM_000313.4(PROS1):c.964_965delinsCC (p.Arg322Pro)
NM_000313.4(PROS1):c.965+5G>A
NM_000313.4(PROS1):c.965+9C>T rs1708504228
NM_000313.4(PROS1):c.980T>A (p.Phe327Tyr)
NM_000313.4(PROS1):c.986T>C (p.Phe329Ser) rs1576180273

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