ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "uncertain significance" from any submitter

Minimum review status of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 59
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn) rs786205497 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461 0.00001
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003358.3(UGCG):c.142dup (p.Ser48fs) rs2118539976
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
Single allele rs1553281318

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