List of variants reported as likely pathogenic for Muscle AMP deaminase deficiency

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	rs34526199	0.02732
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	rs35859650	0.00208
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)	rs139582106	0.00096
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)	rs121912682	0.00031
NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter)	rs1657881990

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