ClinVar Miner

List of variants reported as benign for Progressive familial intrahepatic cholestasis 2 by Natera, Inc.

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Total variants: 14
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NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_003742.4(ABCB11):c.389+8G>A rs11568363
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377
NM_003742.4(ABCB11):c.77-17del rs11568375
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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