List of variants in gene PRKCG reported as likely pathogenic for autosomal dominant 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)	rs749266717	0.00004
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)	rs770016586	0.00003
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	rs1303074743	0.00001
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	rs797045900
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)	rs386134172
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)	rs1555806333
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)	rs2122976509
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	rs1599938631
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)	rs2122988484
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)	rs2068657131
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	rs2122988567
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	rs1599943097
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)	rs121918515
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)	rs973767996
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)	rs2122988688
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)	rs1304701232
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)	rs1471641294

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