ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Blueprint Genetics and "uncertain significance" 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: 85
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs) rs774006181 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs) rs781251567 0.00002
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) rs369787039
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp) rs1592808357
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412

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