List of variants reported as uncertain significance for cholestasis by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	rs34719006	0.00245
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)	rs8187791	0.00068
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)	rs148052192	0.00039
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)	rs199767035	0.00029
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)	rs755385749	0.00004
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	rs144656719	0.00002
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)	rs1811153797
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)	rs1554409388
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro)	rs1909527634
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)	rs946672182
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)

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