List of variants in gene CAMTA1 reported as 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: 19

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.6882372_7422115dup
NC_000001.10:g.7119268_7200395del
NC_000001.9:g.6777038_6826186del
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)	rs2095982231
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)	rs2148504421
NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	rs1641438649
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)	rs1576691273
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)	rs2149989087
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)	rs2096780961
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)	rs2149303084
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)	rs754008719
NM_015215.4(CAMTA1):c.511-18459_511-15460del
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)	rs1085307743
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)	rs1064796146
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)	rs886041999

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