ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Knight Diagnostic Laboratories, Oregon Health and Sciences University and "pathogenic" from any submitter

Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 54
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
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_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) rs769873284 0.00002
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
Single allele

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