ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by OMIM

Included ClinVar conditions (211):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
GATA3, 250-KB DEL
GATA3, 900-KB DEL
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
GRCh38/hg38 Xq28(chrX:153905292-154361918)
MBD5, THR157GLNFSTER4
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NC_000005.10:g.(?_177131798)_(177300213_)?)del
NC_000012.11:g.23979791_24033225del
NC_000012.12:g.23484745_23564581del
NC_000012.12:g.23488792_23626279del
NC_000012.12:g.23771866_23888764del
NC_000015.10:g.75410285_75410288del rs879255619
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000023.11:g.153696346_153701690del
NG_017003.3:g.262835_474705del
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) rs1858937182
NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) rs1858936079
NM_000612.6(IGF2):c.157+3A>C rs1858932834
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) rs869320620
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) rs387906621
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
NM_001002295.2(GATA3):c.478del (p.Asp160fs) rs1588378126
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) rs104894163
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) rs746122348
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs) rs2131501178
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC rs387906551
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del) rs2131511647
NM_001002295.2(GATA3):c.951del (p.Cys318fs) rs2131511714
NM_001013836.2(MAD1L1):c.1882G>T (p.Glu628Ter)
NM_001013836.2(MAD1L1):c.196C>T (p.Gln66Ter)
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) rs879255620
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) rs879255621
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) rs879255618
NM_001145358.2(SIN3A):c.848dup (p.His283fs) rs1567368243
NM_001172509.1(SATB2):c.170_346dup rs2105928778
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) rs1553544187
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.2104del (p.Asp702fs)
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001211.6(BUB1B):c.1402-1G>T rs1566824774
NM_001211.6(BUB1B):c.1402-5A>G rs1566824771
NM_001211.6(BUB1B):c.1833del (p.Phe611fs) rs1566826570
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs) rs1392909108
NM_001256447.2(BCAP31):c.194-2A>G rs879255569
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) rs397515620
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.217-1G>C rs1707171202
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001379200.1(TBX1):c.609C>G (p.His203Gln) rs74315522
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_002655.3(PLAG1):c.1363del (p.Gln455fs) rs1114167318
NM_002655.3(PLAG1):c.439del (p.Ser147fs) rs1114167317
NM_003483.6(HMGA2):c.189del (p.Ala64fs) rs1114167320
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter) rs1114167319
NM_003483.6(HMGA2):c.283-6_283del rs1876803958
NM_003483.6(HMGA2):c.303del (p.Ser102fs) rs1876805546
NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter) rs376882637
NM_004237.4(TRIP13):c.673-1G>C rs1131692330
NM_004654.4(USP9Y):c.773+3_773+6del rs778145751
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) rs869025321
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) rs387906977
NM_014679.5(CEP57):c.520_521del (p.Glu174fs) rs1565326373
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) rs1166323407
NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)
NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)
NM_015110.4(SMC5):c.2968C>G (p.His990Asp)
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) rs864321690
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) rs864321634
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.267_268dup (p.Asp90fs) rs864321691
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_018121.4(SLF2):c.1006dup (p.Arg336fs)
NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)
NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)
NM_018121.4(SLF2):c.2719dup (p.Ser907fs)
NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu) rs1013540105
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1652del (p.Val551fs) rs398122415
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs) rs1555374227
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.5(NSD1):c.3536del (p.Glu1179fs) rs1562213381
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs) rs1562269320
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.5(NSD1):c.6151+1G>A rs1562296511
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln) rs121908068
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs) rs864309639
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser) rs121908069
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
NM_022455.5(NSD1):c.896del (p.Ser299fs) rs1562099585
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411
NM_198489.3(CENATAC):c.803A>T (p.Glu268Val)
NM_198489.3(CENATAC):c.805+2_805+19del
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del

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