ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Quest Diagnostics Nichols Institute San Juan Capistrano and "uncertain significance" from any submitter

Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 70
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly) rs1064794231 0.00001
NM_004655.4(AXIN2):c.1908-2A>G rs978837790 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249

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