List of variants reported as uncertain significance for protein S deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_000313.4(PROS1):c.258A>G (p.Leu86=)	rs139964194	0.00058
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)	rs144526169	0.00040
NM_000313.4(PROS1):c.496A>C (p.Asn166His)	rs758625995	0.00031
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.1747A>C (p.Asn583His)	rs139479630	0.00014
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.1183A>G (p.Ile395Val)	rs368987511	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.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.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.149A>C (p.Lys50Thr)	rs745579260	0.00002
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala)	rs371028997	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.449A>G (p.Gln150Arg)	rs754149240	0.00001
NM_000313.4(PROS1):c.469+5G>A	rs756682607	0.00001
NC_000003.11:g.(?_93593089)_(93772107_?)dup
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.109G>T (p.Val37Phe)
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.1501T>C (p.Ser501Pro)	rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala)	rs121918472
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.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.1891C>T (p.Pro631Ser)	rs1708153020
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr)	rs1576170616
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.2018C>A (p.Thr673Lys)	rs1465989734
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.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.718T>C (p.Ser240Pro)
NM_000313.4(PROS1):c.797A>G (p.Tyr266Cys)
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
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.980T>A (p.Phe327Tyr)
NM_000313.4(PROS1):c.986T>C (p.Phe329Ser)	rs1576180273

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