ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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 gnomAD frequency
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_018668.5(VPS33B):c.96+1G>T rs1567232168 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256

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