List of variants in gene ADSS1 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_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_152328.5(ADSS1):c.919del (p.Ile307fs)	rs559454746	0.00003
NM_152328.5(ADSS1):c.769G>A (p.Ala257Thr)	rs753588351	0.00001
NM_152328.5(ADSS1):c.1091T>C (p.Leu364Pro)	rs1891497352
NM_152328.5(ADSS1):c.741dup (p.Lys248fs)	rs769542442

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