ClinVar Miner

List of variants in gene combination ABCG5, DYNC2LI1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00185
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00160
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00107
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.1640G>C (p.Gly547Ala) rs2104783854

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