ClinVar Miner

List of variants reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.3(BRCA2):c.7008-1G>A rs786204280
NM_000059.3(BRCA2):c.7471del (p.Gln2491fs) rs886038170
NM_000059.3(BRCA2):c.7843_7844del (p.Ile2615fs) rs886040867
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs) rs1566253262
NM_000059.3(BRCA2):c.9281C>G (p.Ser3094Ter) rs786204283
NM_000090.3(COL3A1):c.3093+1G>T rs869312034
NM_000138.4(FBN1):c.2539+1G>T rs794728192
NM_000138.4(FBN1):c.3290G>T (p.Cys1097Phe) rs1555398627
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4700del (p.Gly1567fs) rs1566904526
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4927dup (p.Thr1643fs) rs1566903914
NM_000138.4(FBN1):c.5504_5505del (p.Asp1834_Cys1835insTer) rs1566900492
NM_000138.4(FBN1):c.5964del (p.Cys1989fs) rs1566898120
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.7299C>G (p.Tyr2433Ter) rs1566892872
NM_000138.4(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.4(FBN1):c.950del (p.Pro317fs) rs1566919637
NM_000169.2(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer) rs1565628520
NM_000256.3(MYBPC3):c.1168dup (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs) rs1565627145
NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs) rs1565626367
NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs) rs1565623713
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs) rs1565623439
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.897del (p.Lys301fs) rs1555122928
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu) rs397516354
NM_000364.4(TNNT2):c.634C>T (p.Arg212Trp) rs45586240
NM_000432.3(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.3(MYL2):c.486_490AGAAG[1] (p.Glu164fs)
NM_000432.3(MYL2):c.92_93+1del rs751392310
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter) rs1559051231
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_001267550.2(TTN):c.1558del (p.Thr520fs) rs1561445221
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter) rs1559746821
NM_001267550.2(TTN):c.54382-12_54387delinsCT rs1559712733
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.58732+2T>C rs869312054
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs) rs1559556267
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.87354del (p.Ala29119fs) rs1559262463
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003476.5(CSRP3):c.362del (p.Pro121fs) rs1565050709
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter) rs1561686893
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.4332dup (p.Gln1445fs) rs1561698714
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs) rs1561702549
NM_004572.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_004572.3(PKP2):c.1377A>T (p.Thr459=) rs1565590176
NM_004572.3(PKP2):c.1939_1961del (p.Cys647fs) rs1555142963
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005691.3(ABCC9):c.1011+1G>A rs1565477732
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_007294.3(BRCA1):c.3690dup (p.Phe1231fs) rs1567790559
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
NM_014000.2(VCL):c.963del (p.Leu322fs) rs1564526327
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_133378.4(TTN):c.38532C>A rs368200299
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204

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