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: 35
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HGVS dbSNP
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.3714_3715TA[1] (p.Ile1239fs) rs1064794384
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.538G>A (p.Val180Met) rs74315347
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_144696.6(AXDND1):c.3032-1887G>A
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
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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