ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from GeneDx and "likely benign" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 43
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HGVS dbSNP gnomAD frequency
NM_002461.3(MVD):c.70+5G>A rs200035262 0.00306
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451 0.00116
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499 0.00088
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_007103.4(NDUFV1):c.595C>T (p.Arg199Cys) rs201289242 0.00036
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter) rs754242209 0.00009
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) rs782344765 0.00005
NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala) rs730880300 0.00004
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_000238.4(KCNH2):c.1128+1820_1128+1821del rs1064794494 0.00001
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000213.5(ITGB4):c.3977-30_3977-17del rs1064795468
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001378609.3(OTOGL):c.4199+5_4199+8del rs1887509535
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
Single allele

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