ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge and "uncertain significance" from any submitter

Minimum review status of the submission from NIHR Bioresource Rare Diseases, University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases, University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 73
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp) rs1584926038 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met) rs1594771155
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp) rs387907349
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) rs144437882
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele

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