ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Undiagnosed Diseases Network, NIH and "uncertain significance" from any submitter

Minimum review status of the submission from Undiagnosed Diseases Network, NIH: Collection method of the submission from Undiagnosed Diseases Network, NIH:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_032536.4(NTNG2):c.858-13G>A rs1840794100
NM_183065.4(TMEM107):c.*745C>G rs746503581
Single allele

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