ClinVar Miner

List of variants in gene ABCG8 reported as likely benign for not specified

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=) rs116046586 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) rs139902223 0.00158
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=) rs145341486 0.00092
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) rs148058949 0.00060
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00051
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00011
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
NM_022437.3(ABCG8):c.456C>T (p.Arg152=) rs751273378
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.594G>A (p.Arg198=)
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)

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