ClinVar Miner

List of variants reported as likely pathogenic for cerebellar dysfunction with variable cognitive and behavioral abnormalities

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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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.4363C>T (p.Gln1455Ter)
NM_015215.4(CAMTA1):c.4371-2A>C
NM_015215.4(CAMTA1):c.438+1G>A
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn) rs776553769
NM_015215.4(CAMTA1):c.4618-1G>A
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter) rs2096866859
NM_015215.4(CAMTA1):c.4690-2A>G
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
NM_015215.4(CAMTA1):c.838_839del (p.Ser280fs)

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