List of variants in gene CAMTA1 reported as likely pathogenic for cerebellar disorder

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)	rs2149221667
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)	rs1135401818
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)	rs863224853
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)	rs886041635
NM_015215.4(CAMTA1):c.438+1G>A
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)	rs776553769
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)	rs2096866859
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	rs2150160606
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)	rs2150160765
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)	rs1553280067
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)	rs1553238311

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