ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 14 by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_007126.3(VCP):c.1082-18_1082-8dupTTGTGTACTGT rs11272867
NM_007126.5(VCP):c.1017A>G (p.Ala339=) rs565534943
NM_007126.5(VCP):c.1082-9G>T rs12349922
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947
NM_007126.5(VCP):c.1180G>A (p.Val394Met)
NM_007126.5(VCP):c.1194+3G>A
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626
NM_007126.5(VCP):c.1327A>C (p.Asn443His) rs770514866
NM_007126.5(VCP):c.1329C>T (p.Asn443=) rs748816624
NM_007126.5(VCP):c.1360-4C>G rs769279961
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367
NM_007126.5(VCP):c.1696-7C>T rs1554668202
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424
NM_007126.5(VCP):c.18-5T>C rs114256093
NM_007126.5(VCP):c.1875G>T (p.Arg625=) rs201410035
NM_007126.5(VCP):c.1950G>A (p.Glu650=) rs752382520
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)
NM_007126.5(VCP):c.2014T>G (p.Leu672Val)
NM_007126.5(VCP):c.213C>T (p.Val71=) rs1195805928
NM_007126.5(VCP):c.2161-6C>T rs199513619
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)
NM_007126.5(VCP):c.2316-4A>G rs755625059
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) rs1329151473
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640
NM_007126.5(VCP):c.2412G>A (p.Leu804=) rs757712897
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.278G>A (p.Arg93His) rs779959657
NM_007126.5(VCP):c.303-3C>T rs1183711292
NM_007126.5(VCP):c.320A>T (p.Asp107Val) rs1563980440
NM_007126.5(VCP):c.340A>G (p.Ile114Val)
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) rs1563980403
NM_007126.5(VCP):c.426G>A (p.Ala142=) rs577812326
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) rs121909330
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.479C>T (p.Ala160Val) rs1554668804
NM_007126.5(VCP):c.512G>T (p.Ser171Ile)
NM_007126.5(VCP):c.552C>T (p.Cys184=) rs769455914
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007126.5(VCP):c.576+10C>G rs757728490
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250
NM_007126.5(VCP):c.811+2_811+3inv rs1554668584
NM_007126.5(VCP):c.84T>A (p.Val28=)
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935

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