ClinVar Miner

List of variants in gene ABCG8 studied for not specified

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Total variants: 67
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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.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) rs4148221 0.16563
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
NM_022437.3(ABCG8):c.675G>A (p.Val225=) rs9282575 0.04664
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_022437.3(ABCG8):c.165+13C>T rs75365565 0.01403
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val) rs142250628 0.00624
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
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.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) rs139902223 0.00158
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
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.97G>A (p.Asp33Asn) rs148456883 0.00043
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.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser) rs371166792 0.00019
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu) rs762225826 0.00016
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) rs372921526 0.00013
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.586C>T (p.Arg196Trp) rs200433692 0.00007
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp) rs775957691 0.00001
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His) rs142346631
NM_022437.3(ABCG8):c.1114A>T (p.Thr372Ser)
NM_022437.3(ABCG8):c.1128-4C>T
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
NM_022437.3(ABCG8):c.1412-8delinsTT
NM_022437.3(ABCG8):c.1412-8dup rs1553383723
NM_022437.3(ABCG8):c.1412-9_1412-8delinsTT
NM_022437.3(ABCG8):c.1412-9_1412-8insT rs138296512
NM_022437.3(ABCG8):c.1488+14G>T
NM_022437.3(ABCG8):c.165+16G>T
NM_022437.3(ABCG8):c.1756+16G>A
NM_022437.3(ABCG8):c.1757-15G>A
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
NM_022437.3(ABCG8):c.456C>T (p.Arg152=) rs751273378
NM_022437.3(ABCG8):c.561+18G>T
NM_022437.3(ABCG8):c.561+5C>G
NM_022437.3(ABCG8):c.562-8G>A
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.594G>A (p.Arg198=)
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
NM_022437.3(ABCG8):c.694+16G>A
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp) rs769842021
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)

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