ClinVar Miner

List of variants reported as likely pathogenic by Genome Diagnostics Laboratory, University Medical Center Utrecht

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ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) rs369869993 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) rs199676861 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000243.3(MEFV):c.2296A>C (p.Asn766His) rs148707371 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.430G>A (p.Gly144Ser) rs1036184671 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter) rs1192054216 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg) rs1346393896 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_032305.3(POLR3GL):c.-41-1G>A rs782661984 0.00001
NM_032305.3(POLR3GL):c.326-1G>A rs1553763618 0.00001
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg) rs1285576172
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro) rs199473495
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.2921del (p.Val974fs) rs2154350102
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter) rs2154238618
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter) rs2057661952
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter) rs2154346241
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter) rs750947988
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.62246del (p.Gly20749fs) rs2154183801
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.64672+2T>C rs2154180290
NM_001267550.2(TTN):c.64708del (p.Ser21570fs) rs2048590205
NM_001267550.2(TTN):c.65042del (p.Asp21681fs) rs2154179867
NM_001267550.2(TTN):c.67667del (p.Pro22556fs) rs2154175408
NM_001267550.2(TTN):c.7855+1G>T rs746566745
NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter) rs796635140
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter) rs2154147680
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs) rs2104063769
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.816dup (p.Ala273fs) rs2125167896
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002448.3(MSX1):c.469+5G>C rs2108777804
NM_002448.3(MSX1):c.605G>A (p.Arg202His) rs121913129
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu) rs2125436283
NM_003384.3(VRK1):c.197C>G (p.Ala66Gly) rs1887280587
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
NM_006236.3(POU3F3):c.617_632delinsCCC (p.Leu206fs)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) rs2131299400
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter) rs2142303290
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg) rs2102818914
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219

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