List of variants in gene NPTX1 reported as pathogenic for cerebellar ataxia

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	rs1466750124	0.00001
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)

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