ClinVar Miner

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

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Total variants with conflicting interpretations: 54
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_001159387.2(B4GALNT2):c.954+5G>A rs72835417 0.07909
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) rs5110 0.05327
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) rs71245621
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
Single allele rs1556502214
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

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