ClinVar Miner

List of variants reported as benign for X-linked myopathy with excessive autophagy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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.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.102A>G (p.Thr34=) rs141809048 0.00003
NM_001017980.4(VMA21):c.252G>A (p.Val84=) rs748982102 0.00001
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

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