ClinVar Miner

List of variants reported as uncertain significance for not provided by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys) rs139559937 0.00026
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091 0.00009
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln) rs578073937 0.00006
NM_000384.3(APOB):c.4311C>G (p.Phe1437Leu) rs1801697 0.00004
NM_000384.3(APOB):c.697C>T (p.Arg233Cys) rs1470195999 0.00004
NM_000384.3(APOB):c.8608A>G (p.Ser2870Gly) rs373961682 0.00004
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) rs372569289 0.00004
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) rs778135776 0.00004
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001148.6(ANK2):c.11509G>A (p.Glu3837Lys) rs766615247 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser) rs372282063 0.00002
NM_000384.3(APOB):c.6070A>G (p.Ile2024Val) rs564588440 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys) rs765207227 0.00002
NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu) rs794727766 0.00002
NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe) rs776541865 0.00001
NM_000384.3(APOB):c.5693C>G (p.Ser1898Cys) rs769220751 0.00001
NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn) rs759354804 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002880.4(RAF1):c.1075T>C (p.Ser359Pro) rs765433002 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn) rs371957004 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_000237.3(LPL):c.320A>G (p.Asn107Ser) rs1274719866
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000256.3(MYBPC3):c.1379T>G (p.Leu460Trp) rs1595846382
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser) rs11570113
NM_000256.3(MYBPC3):c.3224C>T (p.Thr1075Ile) rs150786409
NM_000256.3(MYBPC3):c.3256T>C (p.Trp1086Arg) rs1595841556
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly) rs187455402
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys) rs886039090
NM_000257.4(MYH7):c.5616G>T (p.Gln1872His) rs1356446816
NM_000258.3(MYL3):c.400G>A (p.Val134Met) rs776163180
NM_000335.5(SCN5A):c.889G>A (p.Asp297Asn) rs794728853
NM_000384.3(APOB):c.10129C>A (p.Leu3377Met) rs1572778990
NM_000384.3(APOB):c.13004C>T (p.Thr4335Ile) rs1663008802
NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr) rs1663429897
NM_000384.3(APOB):c.4796G>A (p.Arg1599His) rs746414462
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys) rs372902533
NM_000527.5(LDLR):c.1355G>T (p.Cys452Phe) rs1365474464
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.580A>G (p.Ser194Gly) rs373488885
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.793A>T (p.Ser265Cys) rs879254676
NM_001005242.3(PKP2):c.2431C>A (p.His811Asn) rs1592724489
NM_001035.3(RYR2):c.11153A>G (p.Glu3718Gly) rs1692947723
NM_001103.4(ACTN2):c.281T>C (p.Phe94Ser) rs1572113430
NM_001148.6(ANK2):c.2191C>A (p.Pro731Thr) rs942680150
NM_001371904.1(APOA5):c.292GAG[1] (p.Glu99del) rs1591313200
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_002471.4(MYH6):c.1922A>T (p.Lys641Ile) rs1401348638
NM_002471.4(MYH6):c.2098G>T (p.Val700Leu) rs767142932
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) rs1581802595
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_015627.3(LDLRAP1):c.673A>G (p.Thr225Ala) rs767432973
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr) rs1600828677
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846

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