ClinVar Miner

Variants in gene CACNA1G with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His) rs200141555 0.00039
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile) rs752773885 0.00021
NM_018896.5(CACNA1G):c.688G>A (p.Val230Ile) rs768796872 0.00009
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=) rs769342382 0.00008
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn) rs377336879 0.00007
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu) rs757227515 0.00005
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys) rs543673731 0.00004
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln) rs763813233 0.00003
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys) rs776897967 0.00002
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
NM_018896.5(CACNA1G):c.2454C>T (p.Ser818=)
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
NM_018896.5(CACNA1G):c.4682G>A (p.Arg1561Gln)

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