ClinVar Miner

List of variants reported as uncertain significance for Progressive familial intrahepatic cholestasis type 3

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00074
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00015
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00015
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_000443.4(ABCB4):c.-18G>T rs886062461 0.00012
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00007
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00007
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.135+26A>G rs1228839452 0.00001
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) rs763404399 0.00001
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.1067C>T (p.Ala356Val)
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=) rs1811153797
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val) rs886894962
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser) rs863225298
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala) rs2546827826
NM_000443.4(ABCB4):c.2064+5G>A rs2546796817
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.2682G>A (p.Lys894=)
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly) rs2116424316
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala) rs1584684222
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val) rs779141589
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3590T>C (p.Leu1197Pro)
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro) rs2546735713
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_000443.4(ABCB4):c.713T>C (p.Leu238Pro)
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393

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