ClinVar Miner

List of variants studied for protein S deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000313.4(PROS1):c.76+4007C>T rs13062355 0.45865
NM_000313.4(PROS1):c.2001A>G (p.Pro667=) rs6123 0.33781
NM_000313.4(PROS1):c.1032C>T (p.Ile344=) rs78449232 0.00981
NM_000313.4(PROS1):c.728-20G>A rs78230833 0.00438
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.227C>T (p.Pro76Leu) rs73846070 0.00238
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.234+5G>A rs187264712 0.00118
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.1248G>A (p.Pro416=) rs148869673 0.00053
NM_000313.4(PROS1):c.1156-19T>C rs534457194 0.00044
NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala) rs142846443 0.00043
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000313.4(PROS1):c.1041A>G (p.Ser347=) rs376656035 0.00034
NM_000313.4(PROS1):c.1494T>C (p.Asn498=) rs76877671 0.00033
NC_000003.12:g.93973939G>C rs149028936 0.00031
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_000313.4(PROS1):c.431C>A (p.Thr144Asn) rs146366248 0.00029
NM_000313.4(PROS1):c.469+4C>T rs200980997 0.00024
NM_000313.4(PROS1):c.1324A>G (p.Ile442Val) rs768097849 0.00017
NM_000313.4(PROS1):c.1815C>T (p.Ala605=) rs758204799 0.00016
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
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.1183A>G (p.Ile395Val) rs368987511 0.00008
NM_000313.4(PROS1):c.503A>G (p.Asn168Ser) rs144430063 0.00008
NM_000313.4(PROS1):c.852T>G (p.Val284=) rs371425622 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.1323+8T>G rs778473220 0.00006
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
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.177C>T (p.Ile59=) rs764115962 0.00005
NM_000313.4(PROS1):c.1020C>T (p.Tyr340=) rs374634410 0.00004
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.1044G>A (p.Ala348=) rs375245889 0.00003
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.1446C>T (p.Gly482=) rs535201753 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.1566T>A (p.Val522=) rs753144615 0.00003
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp) rs121918476 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.727+8G>C rs373359406 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.149A>C (p.Lys50Thr) rs745579260 0.00002
NM_000313.4(PROS1):c.1629C>T (p.Thr543=) rs773166529 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.444T>C (p.Gly148=) rs1282740437 0.00002
NM_000313.4(PROS1):c.48C>A (p.Leu16=) rs559292587 0.00002
NM_000313.4(PROS1):c.903C>T (p.Tyr301=) rs760392622 0.00002
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1156-8A>C rs773586094 0.00001
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 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.1902C>T (p.Ala634=) rs751777823 0.00001
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) rs141122478 0.00001
NM_000313.4(PROS1):c.204C>G (p.Ala68=) rs1060504812 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.470A>G (p.Asp157Gly) rs751090951 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000313.4(PROS1):c.708C>G (p.Leu236=) rs1231421585 0.00001
NC_000003.11:g.(?_93593089)_(93772107_?)dup
NC_000003.11:g.(?_93593089)_(93845334_?)del
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_000003.11:g.(?_93646084)_(93647651_?)dup
NC_000003.12:g.(?_93874239)_(94053268_?)del
NC_000003.12:g.(?_93879163)_(93879314_?)del
NC_000003.12:g.(?_93924230)_(93973939_?)del
NM_000313.4(PROS1):c.*1_*2insSVAelement
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.1084C>T (p.Gln362Ter) rs1559931820
NM_000313.4(PROS1):c.109G>T (p.Val37Phe)
NM_000313.4(PROS1):c.1107C>T (p.Ser369=)
NM_000313.4(PROS1):c.1124G>T (p.Gly375Val)
NM_000313.4(PROS1):c.1140T>C (p.Asn380=)
NM_000313.4(PROS1):c.1146A>G (p.Leu382=) rs1282696011
NM_000313.4(PROS1):c.1147T>C (p.Trp383Arg) rs1708453757
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) rs1708453639
NM_000313.4(PROS1):c.1153A>G (p.Met385Val)
NM_000313.4(PROS1):c.1155+2T>C
NM_000313.4(PROS1):c.1155+4C>G rs548576399
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1156-10T>G
NM_000313.4(PROS1):c.1156-4G>A
NM_000313.4(PROS1):c.1156-6T>C
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
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.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1218T>C (p.Asp406=)
NM_000313.4(PROS1):c.1229C>A (p.Pro410His)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1230T>C (p.Pro410=)
NM_000313.4(PROS1):c.1241T>C (p.Phe414Ser)
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
NM_000313.4(PROS1):c.1265A>G (p.Glu422Gly)
NM_000313.4(PROS1):c.1294C>G (p.Arg432Gly)
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_000313.4(PROS1):c.1324-4T>G
NM_000313.4(PROS1):c.1324-6del rs762002556
NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)
NM_000313.4(PROS1):c.1334G>A (p.Arg445His)
NM_000313.4(PROS1):c.1335T>C (p.Arg445=) rs2107137629
NM_000313.4(PROS1):c.1335T>G (p.Arg445=) rs2107137629
NM_000313.4(PROS1):c.1345T>A (p.Cys449Ser)
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)
NM_000313.4(PROS1):c.1398T>C (p.Ile466=)
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr) rs766692725
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
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.1464T>C (p.Ser488=) rs2107137350
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu) rs1454230372
NM_000313.4(PROS1):c.1490A>G (p.Tyr497Cys)
NM_000313.4(PROS1):c.1493-17T>C
NM_000313.4(PROS1):c.1493-9T>C
NM_000313.4(PROS1):c.1500A>G (p.Val500=)
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.1506T>C (p.Ser502=) rs1254236549
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
NM_000313.4(PROS1):c.1527T>C (p.Asn509=)
NM_000313.4(PROS1):c.1544G>C (p.Arg515Pro)
NM_000313.4(PROS1):c.1565T>A (p.Val522Asp) rs2107128754
NM_000313.4(PROS1):c.1599G>A (p.Val533=) rs1232149677
NM_000313.4(PROS1):c.1608T>C (p.Ala536=)
NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)
NM_000313.4(PROS1):c.1641A>G (p.Ser547=) rs1445245201
NM_000313.4(PROS1):c.1644+18C>A
NM_000313.4(PROS1):c.1644+2_1644+3insTT rs1218619325
NM_000313.4(PROS1):c.1645-14G>A
NM_000313.4(PROS1):c.1645-8C>T
NM_000313.4(PROS1):c.1654T>C (p.Leu552=)
NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)
NM_000313.4(PROS1):c.1684A>T (p.Ile562Leu) rs1380889353
NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)
NM_000313.4(PROS1):c.1713A>G (p.Gln571=) rs571916140
NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)
NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg) rs2107125076
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter) rs2107202868
NM_000313.4(PROS1):c.183A>G (p.Glu61=) rs536944947
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.1857G>A (p.Leu619=)
NM_000313.4(PROS1):c.1863C>T (p.Gly621=) rs2107124945
NM_000313.4(PROS1):c.1866T>C (p.Leu622=)
NM_000313.4(PROS1):c.1870+13T>C
NM_000313.4(PROS1):c.1871-14T>G rs754929347
NM_000313.4(PROS1):c.1871-18A>G
NM_000313.4(PROS1):c.1871-1G>A rs2107120223
NM_000313.4(PROS1):c.1871-2A>G rs2107120227
NM_000313.4(PROS1):c.1878A>G (p.Pro626=)
NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser) rs1708153020
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) rs1708152510
NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys) rs776022988
NM_000313.4(PROS1):c.1938T>A (p.Gly646=)
NM_000313.4(PROS1):c.1938T>C (p.Gly646=) rs1349900185
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del) rs1709033502
NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu) rs1576170554
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
NM_000313.4(PROS1):c.1991dup (p.His664fs) rs1553808038
NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)
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.2000_2001inv (p.Pro667Leu)
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.228G>T (p.Pro76=)
NM_000313.4(PROS1):c.234+11A>G
NM_000313.4(PROS1):c.235-12T>C
NM_000313.4(PROS1):c.235-13T>G
NM_000313.4(PROS1):c.235-16T>C
NM_000313.4(PROS1):c.235-17C>A
NM_000313.4(PROS1):c.235-1G>A rs1708985469
NM_000313.4(PROS1):c.235G>T (p.Asp79Tyr)
NM_000313.4(PROS1):c.240T>C (p.Tyr80=) rs2107197427
NM_000313.4(PROS1):c.252del (p.Lys84fs) rs1241365457
NM_000313.4(PROS1):c.253T>G (p.Tyr85Asp)
NM_000313.4(PROS1):c.259+20A>G
NM_000313.4(PROS1):c.260-7T>G rs373193429
NM_000313.4(PROS1):c.264T>C (p.Cys88=)
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.294T>C (p.Thr98=)
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.344_346+7del
NM_000313.4(PROS1):c.347-22_347-19del
NM_000313.4(PROS1):c.347-7C>T
NM_000313.4(PROS1):c.35T>A (p.Leu12Gln) rs1347697005
NM_000313.4(PROS1):c.36G>A (p.Leu12=)
NM_000313.4(PROS1):c.3G>C (p.Met1Ile) rs1403076049
NM_000313.4(PROS1):c.469+18C>T
NM_000313.4(PROS1):c.469+19G>A
NM_000313.4(PROS1):c.470-10C>T
NM_000313.4(PROS1):c.470-11dup
NM_000313.4(PROS1):c.470-2A>T rs1708668246
NM_000313.4(PROS1):c.470-4T>C rs1708668274
NM_000313.4(PROS1):c.47T>C (p.Leu16Pro) rs1709925832
NM_000313.4(PROS1):c.480A>G (p.Glu160=)
NM_000313.4(PROS1):c.486A>G (p.Lys162=)
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.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp) rs1708666597
NM_000313.4(PROS1):c.573T>A (p.Val191=)
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) rs1708666412
NM_000313.4(PROS1):c.59C>G (p.Pro20Arg)
NM_000313.4(PROS1):c.601+18G>C
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000313.4(PROS1):c.606G>C (p.Val202=)
NM_000313.4(PROS1):c.607G>T (p.Asp203Tyr)
NM_000313.4(PROS1):c.60C>G (p.Pro20=)
NM_000313.4(PROS1):c.60C>T (p.Pro20=) rs1709918178
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.677G>A (p.Cys226Tyr) rs1553810751
NM_000313.4(PROS1):c.687C>G (p.Pro229=) rs149129715
NM_000313.4(PROS1):c.687C>T (p.Pro229=)
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.708del (p.Lys237fs)
NM_000313.4(PROS1):c.718T>C (p.Ser240Pro)
NM_000313.4(PROS1):c.727+11G>A
NM_000313.4(PROS1):c.727+1G>A rs1332591784
NM_000313.4(PROS1):c.727+8G>A rs373359406
NM_000313.4(PROS1):c.728-1G>T
NM_000313.4(PROS1):c.728-5C>G
NM_000313.4(PROS1):c.728-8dup rs751417718
NM_000313.4(PROS1):c.76+12A>G
NM_000313.4(PROS1):c.76+19C>T
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
NM_000313.4(PROS1):c.77-11G>T
NM_000313.4(PROS1):c.77-15G>T
NM_000313.4(PROS1):c.77-2A>G
NM_000313.4(PROS1):c.793dup (p.Cys265fs) rs2107158205
NM_000313.4(PROS1):c.797A>G (p.Tyr266Cys)
NM_000313.4(PROS1):c.798T>C (p.Tyr266=) rs1447172346
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
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.849+2T>G
NM_000313.4(PROS1):c.850-12C>G
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter) rs554787241
NM_000313.4(PROS1):c.864C>T (p.Cys288=)
NM_000313.4(PROS1):c.871T>C (p.Leu291=) rs2107155422
NM_000313.4(PROS1):c.909G>A (p.Ala303=) rs537938359
NM_000313.4(PROS1):c.912G>A (p.Glu304=)
NM_000313.4(PROS1):c.963C>T (p.Ser321=)
NM_000313.4(PROS1):c.964_965delinsCC (p.Arg322Pro)
NM_000313.4(PROS1):c.965+10C>A
NM_000313.4(PROS1):c.965+10C>G
NM_000313.4(PROS1):c.965+15C>T
NM_000313.4(PROS1):c.965+17A>C
NM_000313.4(PROS1):c.965+5G>A
NM_000313.4(PROS1):c.966-17C>G
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) rs863224838
NM_000313.4(PROS1):c.980T>A (p.Phe327Tyr)
NM_000313.4(PROS1):c.986T>C (p.Phe329Ser) rs1576180273
NM_000313.4(PROS1):c.99A>G (p.Ser33=) rs1709035668

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