List of variants studied for benign recurrent intrahepatic cholestasis type 2 by Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)	rs200870815	0.00023
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)	rs866839234	0.00002
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	rs772294884	0.00001
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)	rs769983873	0.00001
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)	rs2105881962
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)	rs761200259
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)

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