ClinVar Miner

List of variants reported as uncertain significance for X-linked myopathy with excessive autophagy

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.166G>A (p.Ala56Thr) rs140025330 0.00022
NM_001017980.4(VMA21):c.226G>A (p.Val76Ile) rs376099956 0.00004
NM_001017980.4(VMA21):c.202G>T (p.Ala68Ser) rs778349414 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.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001017980.4(VMA21):c.22G>A (p.Ala8Thr) rs1483109932 0.00001
NM_001017980.4(VMA21):c.29A>G (p.Asn10Ser) rs1197341312 0.00001
NM_001017980.4(VMA21):c.41C>T (p.Pro14Leu) rs1412988171 0.00001
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149613783)_(150573536_?)dup
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.164-3T>A
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.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.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.287G>A (p.Arg96His)
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_001363810.1(VMA21):c.59G>A (p.Cys20Tyr)

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