ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Undiagnosed Diseases Network, NIH and "pathogenic" 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: 50
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
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_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00003
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter) rs1401839892 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_183065.4(TMEM107):c.*745C>G rs746503581
Single allele

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