ClinVar Miner

List of variants reported as pathogenic for Muscle AMP deaminase deficiency by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	rs17602729	0.08701
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	rs35859650	0.00208
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)	rs121912682	0.00031

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