ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 30
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_001085411.3(NADK2):c.1A>G (p.Met1Val) rs1277388010 0.00002
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) rs1644918844
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys) rs991616868
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
Single allele

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