ClinVar Miner

List of variants studied for biliary tract disorder by Centogene AG - the Rare Disease Company

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2278del (p.Val760fs) rs2067297301
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp) rs1809166231
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_016356.5(DCDC2):c.923-283_1023+141del rs1761673797

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