ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Blueprint Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Blueprint Genetics: Collection method of the submission from Blueprint Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446 0.00054
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter) rs369083541 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter) rs1249901214 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter) rs1206475365 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser) rs730880734
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000493.4(COL10A1):c.1823del (p.Thr608fs) rs2114278254
NM_000527.5(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001195553.2(DCX):c.808+1G>A rs1921403332
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) rs2136548974
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) rs886042043
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) rs121912891
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu) rs193922922
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914

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.