List of variants in gene WDR73 reported as likely pathogenic for autosomal recessive congenital 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)	rs1896432430	0.00001
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)	rs768820873
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)	rs863223396
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer)	rs2141837067
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.710dup (p.Gly238fs)	rs1282630153
NM_032856.5(WDR73):c.766dup (p.Arg256fs)	rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)	rs866551482
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)	rs1596048227

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