ClinVar Miner

List of variants studied for biliary tract disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer) rs2067328461
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn) rs1599090593
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) rs2101143618

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