ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00014
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
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.1228C>T (p.Arg410Trp)
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) rs2041195702
NM_018896.5(CACNA1G):c.2509C>T (p.Arg837Cys)
NM_018896.5(CACNA1G):c.3086C>T (p.Pro1029Leu)
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.4675C>T (p.Arg1559Cys) rs756359036
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.5438G>A (p.Arg1813Gln)
NM_018896.5(CACNA1G):c.5582_5590del (p.Ala1861_Glu1863del)
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495
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.907G>A (p.Glu303Lys)

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