ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Gharavi Laboratory,Columbia University and "pathogenic" from any submitter

Minimum review status of the submission from Gharavi Laboratory,Columbia University: Collection method of the submission from Gharavi Laboratory,Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000495.5(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.5(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386

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