ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Gharavi Laboratory,Columbia University and "likely 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: 27
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HGVS dbSNP
NM_000059.3(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.4082-1G>T rs1559438651
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_033380.3(COL4A5):c.2510-2A>G rs760109866
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_144696.6(AXDND1):c.3032-1887G>A rs780761368
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_181798.1(KCNQ1):c.416T>C (p.Leu139Pro) rs199473460
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083

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