ClinVar Miner

List of variants studied for spinocerebellar ataxia type 42 by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.3792-87A>T rs198530 0.99492
NM_018896.5(CACNA1G):c.1141-29A>G rs198550 0.58075
NM_018896.5(CACNA1G):c.1925-56A>G rs198551 0.57767
NM_018896.5(CACNA1G):c.1141-71C>T rs16949166 0.47704
NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=) rs739925 0.44850
NM_018896.5(CACNA1G):c.489-56T>G rs12946808 0.42604
NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=) rs12449998 0.42004
NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=) rs2301835 0.10241

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