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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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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.712C>G (p.Leu238Val)	rs45596335	0.00155
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)	rs138773456	0.00073
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	rs372685632	0.00006
NM_000443.4(ABCB4):c.1563A>G (p.Lys521=)	rs751681894	0.00002
NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser)	rs1417236795	0.00001
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)	rs754770911	0.00001
NM_000443.4(ABCB4):c.101_102delinsAA (p.Thr34Lys)	rs1554417370
NM_000443.4(ABCB4):c.1073C>A (p.Ala358Asp)	rs1057518413
NM_000443.4(ABCB4):c.122G>C (p.Gly41Ala)	rs2116986462
NM_000443.4(ABCB4):c.1442T>G (p.Leu481Arg)
NM_000443.4(ABCB4):c.1679C>T (p.Thr560Met)
NM_000443.4(ABCB4):c.1987T>C (p.Phe663Leu)
NM_000443.4(ABCB4):c.2303C>G (p.Thr768Ser)
NM_000443.4(ABCB4):c.2453C>A (p.Ala818Asp)
NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr)	rs1562955080
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn)	rs866301089
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)	rs551234479
NM_000443.4(ABCB4):c.875A>G (p.Lys292Arg)

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