ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "likely pathogenic" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_005619.5(RTN2):c.938dup (p.Thr314fs) rs748397131
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.