ClinVar Miner

List of variants in gene CACNA1G reported as uncertain significance for cerebellar degeneration

Included ClinVar conditions (79):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00014
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) rs527612343 0.00009
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) rs747028553 0.00008
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) rs779077930 0.00006
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) rs1295882768 0.00002
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) rs767121010 0.00002
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) rs1207224249 0.00001
NM_018896.5(CACNA1G):c.2979+1G>T rs1270287011 0.00001
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00001
NM_018896.5(CACNA1G):c.1367G>T (p.Arg456Leu)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr) rs750741896
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp)
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) rs2041195702
NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys)
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu) rs536992411
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) rs2145513175
NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) rs2045220988
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) rs781015006
NM_018896.5(CACNA1G):c.3218G>T (p.Gly1073Val)
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.3373A>G (p.Ser1125Gly)
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.4051G>A (p.Gly1351Arg)
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600
NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) rs2047867072
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) rs756359036
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) rs1361597066
NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) rs2050911351
NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) rs2050959815
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) rs2144657245
NM_018896.5(CACNA1G):c.5438G>A (p.Arg1813Gln)
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_018896.5(CACNA1G):c.5582_5590del (p.Ala1861_Glu1863del)
NM_018896.5(CACNA1G):c.5705A>C (p.Asp1902Ala)
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_018896.5(CACNA1G):c.6368C>A (p.Ser2123Tyr) rs1264876481
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) rs2053744294
NM_018896.5(CACNA1G):c.661G>A (p.Val221Ile)
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu)
NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) rs1192468690
NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) rs2053882218
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys)

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