List of variants reported as likely pathogenic for peripheral vascular disease by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 131

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	rs141764916	0.00016
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)	rs1283365095	0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)	rs999380946	0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)	rs1486994359	0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)	rs1443463485	0.00001
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser)	rs1060503247
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)	rs1060503247
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu)	rs1565594467
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
NM_000020.3(ACVRL1):c.1030_1048+18del	rs1940812948
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
NM_000020.3(ACVRL1):c.1048+5G>A
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
NM_000020.3(ACVRL1):c.1049-1G>A	rs1060503242
NM_000020.3(ACVRL1):c.1049-1G>T	rs1060503242
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)	rs28936401
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro)	rs1060503248
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe)	rs1085307416
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)	rs1940833669
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)	rs1085307417
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)	rs1592225036
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)	rs1592225044
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)	rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	rs1057521203
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)	rs1184716348
NM_000020.3(ACVRL1):c.1231_1246+4dup	rs1940838178
NM_000020.3(ACVRL1):c.1247-1G>C	rs2139083899
NM_000020.3(ACVRL1):c.1247-2A>G
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)	rs753480401
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)	rs1085307419
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala)	rs1085307419
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)	rs1555153828
NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)	rs1940955941
NM_000020.3(ACVRL1):c.1435C>G (p.Arg479Gly)
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)	rs1057523573
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	rs1555152468
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)	rs1555152468
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)	rs2139064874
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly)	rs1555152520
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)	rs1060503234
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)	rs1592221930
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)	rs1288729113
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)	rs1555152790
NM_000020.3(ACVRL1):c.590C>G (p.Thr197Arg)
NM_000020.3(ACVRL1):c.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.632G>T (p.Gly211Val)
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)	rs1940782891
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
NM_000020.3(ACVRL1):c.788A>T (p.Asp263Val)
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys)	rs2139072795
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)	rs1085307409
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)	rs768643771
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)	rs1940804969
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)	rs1940807179
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)	rs565262730
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)	rs1565594311
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys)	rs2139073944
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)	rs2131885751
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)	rs2131879350
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)	rs1564453623
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)	rs1588577016
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)	rs1554809516
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)	rs1830432884
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)	rs1830432509
NM_001114753.3(ENG):c.1267A>C (p.Asn423His)
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
NM_001114753.3(ENG):c.1311+5G>A	rs1830423993
NM_001114753.3(ENG):c.1311G>T (p.Arg437=)	rs1554809448
NM_001114753.3(ENG):c.1312-1G>C	rs2131877148
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu)	rs1830394955
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1517T>A (p.Leu506His)	rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)	rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)	rs1830376644
NM_001114753.3(ENG):c.1686+5G>A	rs1830374353
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	rs1830302008
NM_001114753.3(ENG):c.219+5G>A	rs1554812252
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)	rs1830715947
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)	rs2131889364
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.763G>C (p.Gly255Arg)
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)	rs12042
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)	rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	rs1830569662
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.991+4A>G	rs2131886797
NM_001114753.3(ENG):c.992-49_1046del
NM_016204.4(GDF2):c.1267G>A (p.Val423Met)	rs1358534877
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)	rs200330818

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