ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033 0.00420
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00021
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) rs372168003 0.00016
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) rs201013312 0.00016
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00016
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln) rs545959971 0.00010
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) rs146256515 0.00009
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778 0.00008
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00003
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys) rs536675100 0.00003
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) rs554758747 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) rs770244296 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) rs529549122 0.00001
NM_002161.6(IARS1):c.1358G>A (p.Arg453His) rs570962385 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) rs1271395440 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001195305.3(BBIP1):c.38-6071C>G rs760064445
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) rs1569920188
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser) rs1559027696
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn) rs1553171928
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) rs774299493
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met) rs117750374
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) rs1568017495
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys) rs1568405628
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) rs1463766241
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly) rs1554007320
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp) rs1554007926
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser) rs768996558
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) rs1574775353
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) rs1574775779
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) rs963383651
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773

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