ClinVar Miner

List of variants reported as uncertain significance by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser) rs180795245 0.00092
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser) rs61731630 0.00046
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001382347.1(MYO5A):c.3098T>G (p.Leu1033Trp) rs751411629 0.00019
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His) rs79624852 0.00015
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) rs777008106 0.00013
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn) rs1370253003 0.00010
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_004523.4(KIF11):c.980G>A (p.Arg327His) rs746977730 0.00006
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00006
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) rs140985565 0.00006
NM_000218.3(KCNQ1):c.1514+3290A>G rs1048449968 0.00005
NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala) rs769223012 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His) rs542576870 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_138272.3(MPIG6B):c.248G>A (p.Arg83His) rs200855070 0.00004
NM_000501.4(ELN):c.1357G>A (p.Gly453Arg) rs781802762 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001365999.1(SZT2):c.2929+15C>T rs1030508390 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015836.4(WARS2):c.317C>T (p.Pro106Leu) rs753188889 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_000208.4(INSR):c.3529+5G>A rs764083259 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 0.00002
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_018943.3(TUBA8):c.728G>A (p.Arg243His) rs768178362 0.00002
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys) rs565662182 0.00001
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) rs994299183 0.00001
NM_001267550.2(TTN):c.43033C>T (p.Pro14345Ser) rs1576701632 0.00001
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001457.4(FLNB):c.871G>A (p.Val291Met) rs751747906 0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) rs757047420 0.00001
NM_003356.4(UCP3):c.365C>T (p.Ala122Val) rs773117397 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser) rs868695692 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676 0.00001
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) rs753455443 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) rs1037950511 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) rs774077101 0.00001
NM_016553.5(NUP62):c.548C>T (p.Thr183Met) rs756420654 0.00001
NM_021008.4(DEAF1):c.776C>T (p.Ala259Val) rs1564949612 0.00001
NM_031421.5(ODAD4):c.158G>A (p.Arg53His) rs782594989 0.00001
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) rs61735615 0.00001
NM_181776.3(SLC36A2):c.448G>A (p.Val150Met) rs766388628 0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000098.3(CPT2):c.416C>T (p.Pro139Leu) rs369475478
NM_000133.4(F9):c.855G>C (p.Glu285Asp) rs1603267310
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp) rs1583749201
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) rs1309642469
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) rs1589956747
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp) rs1560426461
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser) rs63750913
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu) rs587779389
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000428.3(LTBP2):c.1934T>C (p.Leu645Pro) rs1566626728
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000535.7(PMS2):c.1145-31_1145-13del rs751973268
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
NM_000815.5(GABRD):c.470+1G>C rs1557445669
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser) rs1591638805
NM_000875.5(IGF1R):c.2741G>A (p.Gly914Glu) rs1596457264
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro) rs2092400099
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg) rs1367567191
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001012759.3(CTU2):c.873+5G>A rs1597431437
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001035256.2(POMC):c.297_298ins90 (p.?)
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001077418.3(TMEM231):c.526C>G (p.Leu176Val) rs775613602
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp) rs757438868
NM_001101.5(ACTB):c.209C>A (p.Pro70His) rs587779769
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu) rs1581221893
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) rs1578557666
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser) rs727504143
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207
NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu) rs767129610
NM_001267550.2(TTN):c.55732+5G>C rs878854377
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys) rs1596818779
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) rs1603251548
NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn) rs1353654549
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp) rs34124958
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg) rs141696238
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096
NM_001379029.1(CERT1):c.1335del (p.Ala446fs) rs1561223965
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) rs1579165246
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_001394062.1(MACF1):c.20105T>C (p.Leu6702Pro) rs1570118657
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001955.5(EDN1):c.184G>C (p.Glu62Gln) rs1561693994
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup) rs1558592501
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) rs1602212318
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn) rs755070607
NM_003483.6(HMGA2):c.283-2A>G rs1592471112
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003978.5(PSTPIP1):c.355-4G>A rs1596111331
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln) rs770815149
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004214.5(FIBP):c.412-11C>G rs1591078042
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val) rs1574976543
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004415.4(DSP):c.979A>G (p.Asn327Asp) rs794727915
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys) rs1602295979
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005220.3(DLX3):c.337GAG[1] (p.Glu114del) rs1598155105
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) rs1435433748
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu) rs1591680946
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) rs1570478057
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg) rs758413695
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) rs1485078108
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) rs751147622
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile) rs1581645904
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006586.5(CNPY3):c.496-3_496-2del rs1581718297
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His) rs1574158109
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_012193.4(FZD4):c.461A>G (p.His154Arg) rs1334686841
NM_013254.4(TBK1):c.400C>T (p.Arg134Cys) rs1592358092
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) rs1239964151
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_014141.6(CNTNAP2):c.2099-79071A>G rs1584975264
NM_014319.5(LEMD3):c.2094T>G (p.His698Gln) rs1309178409
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) rs1586200380
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln) rs1573708173
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) rs1583671246
NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs) rs2052846280
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys) rs1571340611
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) rs1564032190
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) rs1574742379
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) rs1570073403
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs) rs1591060788
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys) rs1598224070
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys) rs782121512
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu) rs1570942566
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val) rs1558088029
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022370.4(ROBO3):c.2727C>G (p.Cys909Trp) rs1565313973
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) rs1573454800
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) rs1567972995
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser) rs1430511251
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly) rs1595810000
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) rs1892588636
NM_145331.3(MAP3K7):c.986A>T (p.Asn329Ile) rs767139595
NM_153252.5(BRWD3):c.3602+20C>G rs1602309498
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu) rs1601590796
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) rs1555543390
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser) rs1581526962
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) rs1341469393
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln) rs749720186
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) rs398124590
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) rs781860587
NM_205836.3(FBXO38):c.1618+1G>T rs1581261359
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) rs1449103875
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663

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