ClinVar Miner

List of variants studied for autosomal recessive disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001171.6(ABCC6):c.3306+1del rs797045078
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs) rs2103771766
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_014363.6(SACS):c.11100dup (p.Trp3701fs) rs1883571351
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter) rs1668654133
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter) rs776034810
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044

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