ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Faculty of Health Sciences, Beirut Arab University and "likely pathogenic" from any submitter

Minimum review status of the submission from Faculty of Health Sciences, Beirut Arab University: Collection method of the submission from Faculty of Health Sciences, Beirut Arab University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
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_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
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_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) rs763127023 0.00001
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
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_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
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_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_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

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