ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_001017980.3(VMA21):c.*6A>G rs878854355
NM_001017980.3(VMA21):c.163+4A>G rs797044909
NM_001017980.3(VMA21):c.164G>T (p.Gly55Val) rs1306425454
NM_001017980.3(VMA21):c.166G>A (p.Ala56Thr) rs140025330
NM_001017980.3(VMA21):c.236T>G (p.Val79Gly)
NM_001017980.3(VMA21):c.23C>T (p.Ala8Val) rs1556034337
NM_001017980.3(VMA21):c.29A>G (p.Asn10Ser) rs1197341312
NM_001017980.3(VMA21):c.41C>T (p.Pro14Leu) rs1412988171

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