ClinVar Miner

List of variants reported as pathogenic for cholangitis

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
GRCh37/hg19 3q28(chr3:190039387-190040504)
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.2682+1G>A rs1012575668
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter) rs931093296
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) rs1042640142
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.536_537del (p.Leu179fs) rs2113838075
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.705-2A>G
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517

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