ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Daryl Scott Lab, Baylor College of Medicine and "likely pathogenic" from any submitter

Minimum review status of the submission from Daryl Scott Lab, Baylor College of Medicine: Collection method of the submission from Daryl Scott Lab, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 31
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
Single allele

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