ClinVar Miner

List of variants reported as pathogenic by Pediatric Genetics Clinic, Sheba Medical Center

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00012
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_031421.5(ODAD4):c.1979del (p.Thr660fs) rs1303840855 0.00006
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_000193.4(SHH):c.*2824C>A rs868096125 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter) rs1359321518 0.00001
NM_005639.3(SYT1):c.1198C>T (p.Arg400Ter) rs1377017458 0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del rs755127868 0.00001
NM_145020.5(CFAP53):c.778-2A>T rs778118886 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) rs72648330
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg) rs2151674034
NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del) rs2115396610
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) rs1555968941
NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu) rs201004195
NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter) rs1367505804
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.578+1G>A rs796053357
NM_001040142.2(SCN2A):c.2562+2T>C rs1574636792
NM_001042492.3(NF1):c.888+2T>G rs2066160116
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001083962.2(TCF4):c.1146+1G>A rs587784458
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg) rs587777744
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp) rs2105429648
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter) rs2134269273
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs) rs2138904272
NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) rs2154275777
NM_001349338.3(FOXP1):c.1553G>A (p.Ser518Asn) rs2107200789
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) rs1569306724
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001371928.1(AHDC1):c.1814_1819delinsT (p.Ala605fs) rs2148283415
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs) rs2128303803
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs) rs2128397334
NM_001378418.1(TCF20):c.3849_3850insTC (p.Leu1284fs) rs2147203200
NM_001378418.1(TCF20):c.5221_5222del (p.Arg1741fs) rs2147195786
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter) rs2147179499
NM_001904.4(CTNNB1):c.646G>A (p.Gly216Arg) rs2125623075
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp) rs2147627388
NM_002547.3(OPHN1):c.2159-1G>C rs2147349266
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003482.4(KMT2D):c.7650del (p.Val2551fs) rs2120522545
NM_003718.5(CDK13):c.2201A>C (p.Lys734Thr) rs1784692399
NM_004444.5(EPHB4):c.2605dup (p.Gln869fs) rs2116413904
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004615.4(TSPAN7):c.289del (p.Leu97fs) rs2147452502
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val) rs2121245032
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) rs869320691
NM_006280.3(SSR4):c.261+2_261+8del rs2148450759
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter) rs2146604602
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg) rs2146598316
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser) rs2105280445
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter) rs2116752243
NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) rs2043159037
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) rs2129341954
NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr) rs2149872616
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) rs2102147153
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys) rs1018963624
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs) rs2147746137
NM_015559.3(SETBP1):c.1777C>T (p.Gln593Ter) rs2145100544
NM_017635.5(KMT5B):c.541C>G (p.His181Asp) rs2153055850
NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile) rs2153052073
NM_017950.4(CCDC40):c.2832+489_2832+491dup rs1363364769
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) rs2148144488
NM_018684.4(ZC4H2):c.575G>A (p.Cys192Tyr) rs2147345743
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp) rs2146563694
NM_024665.7(TBL1XR1):c.597_600del (p.Ser199fs) rs2108490822
NM_032436.4(CHAMP1):c.1995dup (p.Ser666Ter) rs2139422391
NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs) rs2135055284
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.878T>C (p.Leu293Pro) rs2145718961

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