List of variants in gene CAMTA1 reported as likely benign 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)	rs6674962	0.00613
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)	rs151133441	0.00433
NM_015215.4(CAMTA1):c.3066+20C>T	rs147462930	0.00264
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)	rs144242373	0.00137
NM_015215.4(CAMTA1):c.3273C>T (p.His1091=)	rs139526435	0.00088
NM_015215.4(CAMTA1):c.3471G>A (p.Val1157=)	rs151130353	0.00051
NM_015215.4(CAMTA1):c.2120C>G (p.Ser707Cys)	rs141259598	0.00046
NM_015215.4(CAMTA1):c.1326C>T (p.Phe442=)	rs141193119	0.00019
NM_015215.4(CAMTA1):c.806-11G>A	rs200922493	0.00014
NM_015215.4(CAMTA1):c.2190C>T (p.Ala730=)	rs191079752	0.00013
NM_015215.4(CAMTA1):c.2223G>A (p.Val741=)	rs747383026	0.00004
NM_015215.4(CAMTA1):c.1044G>A (p.Gln348=)
NM_015215.4(CAMTA1):c.1128G>A (p.Pro376=)
NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)
NM_015215.4(CAMTA1):c.1377C>T (p.Asn459=)
NM_015215.4(CAMTA1):c.174T>G (p.Leu58=)
NM_015215.4(CAMTA1):c.1947G>A (p.Thr649=)
NM_015215.4(CAMTA1):c.1998C>G (p.Ile666Met)	rs141192116
NM_015215.4(CAMTA1):c.2697C>T (p.Ser899=)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.2914+2448del
NM_015215.4(CAMTA1):c.3414G>A (p.Ser1138=)
NM_015215.4(CAMTA1):c.4287C>A (p.Asp1429Glu)
NM_015215.4(CAMTA1):c.4384G>A (p.Glu1462Lys)
NM_015215.4(CAMTA1):c.4401T>C (p.Ser1467=)
NM_015215.4(CAMTA1):c.4446C>A (p.Ile1482=)
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)	rs2096854165
NM_015215.4(CAMTA1):c.576C>T (p.Cys192=)
NM_015215.4(CAMTA1):c.806-5C>T

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