ClinVar Miner

List of variants reported as likely pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_001346754.2(PIGW):c.281T>A (p.Leu94Ter) rs770634248 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00003
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963 0.00002
NM_020435.4(GJC2):c.17G>A (p.Trp6Ter) rs878853083 0.00002
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001163435.3(TBCK):c.1220+1G>A rs760715215 0.00001
NM_001166114.2(PNPLA6):c.3816+1G>A rs1490826010 0.00001
NM_001348768.2(HECW2):c.4436G>A (p.Arg1479Gln) rs143511416 0.00001
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs) rs773348232 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter) rs200870836 0.00001
NM_016648.4(LARP7):c.552+1G>T rs200544616 0.00001
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_022095.4(ZNF335):c.1356-1G>A rs1234838549 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_033028.5(BBS4):c.2T>C (p.Met1Thr) rs1302879683 0.00001
NM_153816.6(SNX14):c.1608+1G>C rs749656742 0.00001
NC_000014.9:g.67767834_67767843del
NM_000095.3(COMP):c.1279_1291del (p.Gly427fs) rs878853098
NM_000171.4(GLRA1):c.373G>A (p.Asp125Asn) rs1057520186
NM_000252.3(MTM1):c.137-3T>G rs878853069
NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr) rs727504299
NM_000278.5(PAX2):c.43+5G>T rs878853000
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) rs1553412246
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000533.5(PLP1):c.388C>T (p.His130Tyr) rs878853076
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter) rs1555770968
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000789.4(ACE):c.1611GTTCCA[3] (p.537QF[3]) rs771053807
NM_001001557.4(GDF6):c.73C>T (p.Gln25Ter) rs878853102
NM_001003694.2(BRPF1):c.953G>A (p.Arg318His) rs1553695038
NM_001009999.3(KDM1A):c.1003G>T (p.Gly335Ter) rs1553129293
NM_001035006.5(RPL17):c.452del (p.Thr151fs)
NM_001039141.3(TRIOBP):c.4062+2T>C rs1057520081
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001077365.2(POMT1):c.2004-1_2005del rs1057520142
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001134407.3(GRIN2A):c.1895C>T (p.Ser632Phe) rs1057520116
NM_001134407.3(GRIN2A):c.2258G>C (p.Gly753Ala) rs1555488124
NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser) rs1573010519
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs) rs1057520101
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177
NM_001199563.2(BVES):c.731_734del (p.Phe244fs) rs759745220
NM_001206999.2(CIT):c.1122dup (p.Phe375fs) rs1057520205
NM_001278716.2(FBXL4):c.1440dup (p.Leu481fs) rs879255542
NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) rs878853112
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001330260.2(SCN8A):c.4501C>A (p.Gln1501Lys) rs1057520149
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001356.5(DDX3X):c.202_205dup (p.Tyr69fs) rs1555952659
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367721.1(CASK):c.1033+1G>A rs1556000257
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001372044.2(SHANK3):c.1257+4A>G rs1555906705
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_002161.6(IARS1):c.1382_1383del (p.Arg461fs) rs1057520159
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002906.4(RDX):c.467+1G>A rs1057520174
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003482.4(KMT2D):c.2T>C (p.Met1Thr) rs1057520167
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_004004.6(GJB2):c.85_87del (p.Phe29del) rs1555342003
NM_004035.7(ACOX1):c.532G>A (p.Gly178Ser) rs118204091
NM_004187.5(KDM5C):c.224T>C (p.Leu75Pro) rs1057520198
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter) rs879192998
NM_004273.5(CHST3):c.1052C>T (p.Ser351Phe) rs1057520111
NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro) rs1057520191
NM_004830.4(MED23):c.1932-1G>A rs878853110
NM_004836.7(EIF2AK3):c.1650+1G>A rs1205989324
NM_005236.3(ERCC4):c.755del (p.Leu252fs) rs1057520104
NM_005273.4(GNB2):c.229G>T (p.Gly77Trp) rs1804373189
NM_005589.4(ALDH6A1):c.1306del (p.Gln436fs) rs1555376629
NM_006129.5(BMP1):c.208C>T (p.Gln70Ter) rs1422817588
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006420.3(ARFGEF2):c.3169C>T (p.Gln1057Ter) rs1057520166
NM_006494.4(ERF):c.879del (p.Ser295fs) rs1555750642
NM_006618.5(KDM5B):c.1625_1626del (p.Phe542fs) rs755833290
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_007254.4(PNKP):c.265dup (p.Val89fs) rs879255541
NM_007327.4(GRIN1):c.2008C>A (p.Pro670Thr) rs1057520055
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013296.5(GPSM2):c.1393C>T (p.Gln465Ter) rs1553215684
NM_014112.5(TRPS1):c.787del (p.Leu263fs) rs1554598891
NM_014332.3(SMPX):c.99dup (p.Arg34fs) rs398122930
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_015047.3(EMC1):c.287-1G>A rs751484278
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter) rs1057520162
NM_015335.5(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn) rs1057520050
NM_016343.4(CENPF):c.1630del (p.Lys543_Ile544insTer) rs1553288555
NM_016343.4(CENPF):c.4171G>T (p.Glu1391Ter) rs141352776
NM_016401.4(HIKESHI):c.31-1G>T rs1057520064
NM_016604.4(KDM3B):c.4549C>T (p.Arg1517Ter) rs1554131871
NM_016648.4(LARP7):c.1213dup (p.Thr405fs) rs750946801
NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter) rs1553227015
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_020988.3(GNAO1):c.983A>G (p.Asp328Gly) rs878853051
NM_021074.5(NDUFV2):c.434_435del (p.Asn144_Ser145insTer) rs749693247
NM_022455.5(NSD1):c.4918T>A (p.Cys1640Ser) rs878853111
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter) rs1057520080
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter) rs1057520049
NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg) rs878853015
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033419.5(PGAP3):c.32del (p.Leu11fs) rs1057520108
NM_058004.4(PI4KA):c.3559C>T (p.Gln1187Ter) rs1555884508
NM_144508.5(KNL1):c.5130dup (p.Ile1711fs) rs1555420936
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145331.3(MAP3K7):c.745C>T (p.Pro249Ser) rs2127974491
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter) rs878853055
NM_170606.3(KMT2C):c.7826_7829dup (p.Pro2611fs) rs1554496279
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172250.3(MMAA):c.829dup (p.Arg277fs) rs774958165
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro) rs878853026
NM_178014.4(TUBB):c.533C>G (p.Thr178Ser) rs1057520046
NM_182641.4(BPTF):c.5282del (p.Pro1761fs) rs1555652826
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_183075.3(CYP2U1):c.-24_8del (p.Met1fs) rs747068538
NM_207037.2(TCF12):c.1035+5G>A rs878853094

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