ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "pathogenic" 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: 63
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) rs771414481 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_006204.4(PDE6C):c.939+5G>A rs374805348 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
Single allele rs1555502637

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