ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Sharon lab, Hadassah-Hebrew University Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Sharon lab, Hadassah-Hebrew University Medical Center: Collection method of the submission from Sharon lab, Hadassah-Hebrew University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116

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