List of variants in gene ABCB4 reported as pathogenic for cholestasis, intrahepatic, of pregnancy, 3

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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: 14

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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.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.2177C>T (p.Pro726Leu)	rs141677867	0.00001
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)	rs72552780	0.00001
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	rs753104429
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)	rs387906528
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)	rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs)	rs387906527
NM_000443.4(ABCB4):c.2044del (p.Asp682fs)	rs1562965036
NM_000443.4(ABCB4):c.2683-883_2783+345del
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	rs752916287

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