List of variants in gene AMPD1 reported as pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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.468G>T (p.Gln156His)	rs139582106	0.00096
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)	rs121912682	0.00031
NC_000001.10:g.(?_115231162)_(115238191_?)del

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