ClinVar Miner

List of variants reported as benign for benign recurrent intrahepatic cholestasis by Natera, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359 0.02682
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373 0.02633
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616 0.01137
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.77-17del rs11568375 0.01069
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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