ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Medicine Lab, University of California San Francisco and "likely pathogenic" from any submitter

Minimum review status of the submission from Genomic Medicine Lab, University of California San Francisco: Collection method of the submission from Genomic Medicine Lab, University of California San Francisco:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764

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