List of variants in gene CA8 studied for autosomal recessive congenital cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004056.6(CA8):c.-54A>C	rs10101374	0.60710
NM_004056.6(CA8):c.100+85T>C	rs7002871	0.60674
NM_004056.6(CA8):c.-103T>C	rs10086341	0.60622
NM_004056.6(CA8):c.327A>G (p.Glu109=)	rs7464181	0.51676
NM_004056.6(CA8):c.710G>A (p.Arg237Gln)	rs387906598	0.00001
NM_004056.6(CA8):c.100+1G>A	rs1563390893
NM_004056.6(CA8):c.298T>C (p.Ser100Pro)	rs267606695
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)	rs79267946
NM_004056.6(CA8):c.730dup (p.Gln244fs)	rs1807291595

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