ClinVar Miner

List of variants reported as likely 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: 19
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HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu) rs765120199 0.00031
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.222C>T (p.Val74=) rs757726449 0.00001
NM_001017980.4(VMA21):c.228C>A (p.Val76=) rs1420326652 0.00001
NM_001017980.4(VMA21):c.291A>G (p.Glu97=) rs1361409196 0.00001
NM_001017980.4(VMA21):c.300G>A (p.Gln100=) rs976371455 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
NM_001017980.4(VMA21):c.132A>G (p.Leu44=)
NM_001017980.4(VMA21):c.164-19_164-18del rs759922939
NM_001017980.4(VMA21):c.164-20del
NM_001017980.4(VMA21):c.183T>C (p.Asn61=)
NM_001017980.4(VMA21):c.231T>C (p.His77=)
NM_001017980.4(VMA21):c.258G>A (p.Val86=)
NM_001017980.4(VMA21):c.27G>C (p.Leu9=)
NM_001017980.4(VMA21):c.42T>C (p.Pro14=) rs2124119352
NM_001017980.4(VMA21):c.9C>T (p.Arg3=)

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