List of variants in gene ABCB4 reported as pathogenic for bilirubin metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00009
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)	rs121918440	0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	rs754287486	0.00002
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	rs1458423947	0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)	rs760153272	0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	rs141677867	0.00001
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)	rs72552780	0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	rs377160065	0.00001
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)	rs1348610360	0.00001
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	rs753104429
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)	rs121918443
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)	rs1562976061
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
NM_000443.4(ABCB4):c.1712del (p.Val571fs)	rs387906527
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)	rs148792791
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)	rs387906529
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	rs1808782267
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	rs752916287
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)	rs1584678508
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	rs759202962
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)	rs1562945221
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)	rs387906526
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)

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