ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill and "likely pathogenic" from any submitter

Minimum review status of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882

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