ClinVar Miner

List of variants studied for X-linked myopathy with excessive autophagy by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.225C>T (p.Ala75=) rs139323488 0.00403
NM_001017980.4(VMA21):c.163+16T>G rs188765636 0.00294
NM_001017980.4(VMA21):c.182A>G (p.Asn61Ser) rs141926826 0.00208
NM_001017980.4(VMA21):c.165C>T (p.Gly55=) rs146017753 0.00100
NM_001017980.4(VMA21):c.163+14C>T rs373448097 0.00067
NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu) rs765120199 0.00031
NM_001017980.4(VMA21):c.166G>A (p.Ala56Thr) rs140025330 0.00022
NM_001017980.4(VMA21):c.144T>G (p.Thr48=) rs201487581 0.00017
NM_001017980.4(VMA21):c.255T>C (p.Tyr85=) rs201565563 0.00010
NM_001017980.4(VMA21):c.76A>G (p.Thr26Ala) rs143565725 0.00010
NM_001017980.4(VMA21):c.226G>A (p.Val76Ile) rs376099956 0.00004
NM_001017980.4(VMA21):c.102A>G (p.Thr34=) rs141809048 0.00003
NM_001017980.4(VMA21):c.24G>A (p.Ala8=) rs752573385 0.00003
NM_001017980.4(VMA21):c.12G>A (p.Pro4=) rs1029458335 0.00002
NM_001017980.4(VMA21):c.53+5C>T rs1045706196 0.00002
NM_001017980.4(VMA21):c.86C>T (p.Thr29Met) rs148033471 0.00002
NM_001017980.4(VMA21):c.127G>T (p.Gly43Trp) rs1246363659 0.00001
NM_001017980.4(VMA21):c.222C>T (p.Val74=) rs757726449 0.00001
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001017980.4(VMA21):c.228C>A (p.Val76=) rs1420326652 0.00001
NM_001017980.4(VMA21):c.22G>A (p.Ala8Thr) rs1483109932 0.00001
NM_001017980.4(VMA21):c.252G>A (p.Val84=) rs748982102 0.00001
NM_001017980.4(VMA21):c.291A>G (p.Glu97=) rs1361409196 0.00001
NM_001017980.4(VMA21):c.29A>G (p.Asn10Ser) rs1197341312 0.00001
NM_001017980.4(VMA21):c.300G>A (p.Gln100=) rs976371455 0.00001
NM_001017980.4(VMA21):c.41C>T (p.Pro14Leu) rs1412988171 0.00001
NM_001017980.4(VMA21):c.53+18C>T rs1371007370 0.00001
NM_001017980.4(VMA21):c.54-17T>C rs760213001 0.00001
NM_001017980.4(VMA21):c.57T>C (p.Asn19=) rs1402497520 0.00001
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149613783)_(150573536_?)dup
NM_001017980.4(VMA21):c.*6A>G rs878854355
NM_001017980.4(VMA21):c.112A>G (p.Ile38Val) rs2124125310
NM_001017980.4(VMA21):c.11C>A (p.Pro4Gln)
NM_001017980.4(VMA21):c.11C>G (p.Pro4Arg)
NM_001017980.4(VMA21):c.11C>T (p.Pro4Leu)
NM_001017980.4(VMA21):c.132A>G (p.Leu44=)
NM_001017980.4(VMA21):c.163+4A>G rs797044909
NM_001017980.4(VMA21):c.164-11del rs753508417
NM_001017980.4(VMA21):c.164-11dup rs753508417
NM_001017980.4(VMA21):c.164-19G>T rs773306168
NM_001017980.4(VMA21):c.164-19_164-18del rs759922939
NM_001017980.4(VMA21):c.164-20del
NM_001017980.4(VMA21):c.164-7T>G rs878854353
NM_001017980.4(VMA21):c.164G>A (p.Gly55Asp)
NM_001017980.4(VMA21):c.164G>T (p.Gly55Val) rs1306425454
NM_001017980.4(VMA21):c.172G>A (p.Gly58Arg)
NM_001017980.4(VMA21):c.175A>G (p.Met59Val) rs2124126715
NM_001017980.4(VMA21):c.183T>C (p.Asn61=)
NM_001017980.4(VMA21):c.187G>T (p.Asp63Tyr)
NM_001017980.4(VMA21):c.208A>G (p.Ile70Val)
NM_001017980.4(VMA21):c.220G>T (p.Val74Phe)
NM_001017980.4(VMA21):c.231T>C (p.His77=)
NM_001017980.4(VMA21):c.236T>G (p.Val79Gly) rs1602821150
NM_001017980.4(VMA21):c.23C>T (p.Ala8Val) rs1556034337
NM_001017980.4(VMA21):c.245T>G (p.Leu82Arg) rs2011274822
NM_001017980.4(VMA21):c.258G>A (p.Val86=)
NM_001017980.4(VMA21):c.27G>C (p.Leu9=)
NM_001017980.4(VMA21):c.287G>A (p.Arg96His)
NM_001017980.4(VMA21):c.42T>C (p.Pro14=) rs2124119352
NM_001017980.4(VMA21):c.53+4G>T
NM_001017980.4(VMA21):c.54-27A>C rs878854352
NM_001017980.4(VMA21):c.54-27A>G
NM_001017980.4(VMA21):c.57T>G (p.Asn19Lys)
NM_001017980.4(VMA21):c.9C>T (p.Arg3=)

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