List of variants in gene ATP1A1 reported as pathogenic for Charcot-Marie-Tooth disease type 2

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	rs1553192086
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)	rs2525861491
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	rs1553192091
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)	rs1553192783

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