ClinVar Miner

List of variants studied for autosomal anomaly by OMIM

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_032322.4(RNF135):c.857G>A (p.Arg286His) rs121918162 0.00011
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter) rs121918161 0.00003
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
MBD5, THR157GLNFSTER4
NC_000001.10:g.61497698_61607171del
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NC_000005.10:(?_177131798)_(177300213_)?)del
NC_000005.9:g.(?_126102443)_(126199753_?)dup
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_000017.11:g.(14170534_14194724)_(15567585_15591587)del
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NG_011787.1:g.(205313_260238)_(334455_354191)del
NG_017003.3:g.262835_474705del
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_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_001134673.4(NFIA):c.1094del (p.Pro365fs) rs1060505054
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_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs) rs1558507406
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.217-1G>C rs1707171202
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs) rs748900140
NM_001378414.1(HDAC4):c.490+56_490+120del
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_004715.5(CTDP1):c.863+389C>T rs113994102
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) rs869025321
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_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_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032322.4(RNF135):c.742del (p.Leu248fs) rs724159977
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
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del

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