ClinVar Miner

List of variants in gene CACNG2 studied for intellectual disability, autosomal dominant 10

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006078.5(CACNG2):c.944C>G (p.Thr315Arg) rs1310263381 0.00001
NM_006078.5(CACNG2):c.136A>C (p.Ser46Arg)
NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser) rs1935129350
NM_006078.5(CACNG2):c.427G>C (p.Val143Leu) rs1935124757
NM_006078.5(CACNG2):c.589G>A (p.Ala197Thr)
NM_006078.5(CACNG2):c.669C>G (p.Ile223Met) rs758357916
NM_006078.5(CACNG2):c.956G>C (p.Arg319Pro)

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