ClinVar Miner

List of variants in gene ABCB4 reported as uncertain significance by Invitae

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
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.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met) rs147577035 0.00016
NM_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000443.4(ABCB4):c.3671G>A (p.Arg1224His) rs144790968 0.00012
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val) rs765478923 0.00003
NM_000443.4(ABCB4):c.1592C>T (p.Ala531Val) rs144302326 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln) rs763807769 0.00001
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) rs763404399 0.00001
NM_000443.4(ABCB4):c.3280-9G>A rs200617059 0.00001
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393 0.00001
NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp) rs374836252 0.00001
NM_000443.4(ABCB4):c.997G>A (p.Ala333Thr) rs780152646 0.00001
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
NM_000443.4(ABCB4):c.1237A>G (p.Lys413Glu)
NM_000443.4(ABCB4):c.1296_1301del (p.Cys433_Gly434del)
NM_000443.4(ABCB4):c.134T>C (p.Leu45Ser)
NM_000443.4(ABCB4):c.1472G>T (p.Cys491Phe) rs750188186
NM_000443.4(ABCB4):c.1529A>T (p.Asn510Ile)
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.1650C>A (p.Asn550Lys)
NM_000443.4(ABCB4):c.1792G>A (p.Asp598Asn)
NM_000443.4(ABCB4):c.1865G>C (p.Gly622Ala)
NM_000443.4(ABCB4):c.2191A>G (p.Ile731Val) rs200949614
NM_000443.4(ABCB4):c.2198C>T (p.Ser733Leu) rs759894200
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2260T>C (p.Phe754Leu) rs1156521640
NM_000443.4(ABCB4):c.2341G>A (p.Glu781Lys)
NM_000443.4(ABCB4):c.2413G>A (p.Asp805Asn)
NM_000443.4(ABCB4):c.2505T>G (p.Ile835Met)
NM_000443.4(ABCB4):c.2534G>T (p.Gly845Val)
NM_000443.4(ABCB4):c.2618T>C (p.Val873Ala)
NM_000443.4(ABCB4):c.2678G>A (p.Gly893Glu)
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2887A>G (p.Ile963Val)
NM_000443.4(ABCB4):c.3148C>T (p.Pro1050Ser)
NM_000443.4(ABCB4):c.3215G>T (p.Gly1072Val)
NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp) rs1262922848
NM_000443.4(ABCB4):c.3350A>G (p.Gln1117Arg)
NM_000443.4(ABCB4):c.3559C>G (p.Arg1187Gly)
NM_000443.4(ABCB4):c.3680T>G (p.Ile1227Ser)
NM_000443.4(ABCB4):c.376G>A (p.Gly126Arg)
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_000443.4(ABCB4):c.809G>A (p.Gly270Glu)
NM_000443.4(ABCB4):c.899C>A (p.Ser300Tyr)

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