ClinVar Miner

List of variants in gene ABCG8 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_022437.3(ABCG8):c.64-7C>T rs4148210 0.41875
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) rs4148221 0.16563
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718

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