ClinVar Miner

Variants with conflicting interpretations "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: 24
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) rs1244525711 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg) rs983463553
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) rs794728967
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_017780.4(CHD7):c.2239-16T>A
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
Single allele

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