ClinVar Miner

List of variants reported as pathogenic for X-linked myopathy with excessive autophagy by OMIM

Included ClinVar conditions (1):
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Minimum conflict level:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.*13_*104del rs1556035617
NM_001017980.4(VMA21):c.*6A>G rs878854355
NM_001017980.4(VMA21):c.163+4A>G rs797044909
NM_001017980.4(VMA21):c.164-6T>G rs878854356
NM_001017980.4(VMA21):c.164-7T>G rs878854353
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala) rs878854354
NM_001017980.4(VMA21):c.54-16_54-8del rs878854357
NM_001017980.4(VMA21):c.54-27A>C rs878854352
NM_001017980.4(VMA21):c.54-27A>T rs878854352

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