ClinVar Miner

List of variants reported as likely pathogenic by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
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HGVS dbSNP
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.12372G>A rs2853499
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000044.6(AR):c.2342T>A (p.Met781Lys)
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000063.6(C2):c.839_849del (p.Met280fs)
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000104.3(CYP1B1):c.1169G>A (p.Arg390His) rs56010818
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000157.4(GBA):c.1495G>C (p.Val499Leu) rs369068553
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000188.3(HK1):c.1393G>A (p.Glu465Lys)
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) rs1554517725
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln) rs1427104281
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs) rs1566526391
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000266.4(NDP):c.200G>T (p.Gly67Val) rs1460859456
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) rs755565099
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061
NM_000376.3(VDR):c.821G>A (p.Arg274His)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln) rs769892461
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.376G>A rs397508606
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser)
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) rs555068245
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001001547.3(CD36):c.784dup (p.Gln262fs) rs766920034
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer) rs1569523468
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001039958.2(MESP2):c.583G>T (p.Gly195Ter)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
NM_001042723.2(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_001048171.1(MUTYH):c.1105del (p.Ala371fs) rs587778536
NM_001077418.3(TMEM231):c.-11G>T
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001080522.2(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys)
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
NM_001163435.3(TBCK):c.360_363del (p.His120fs) rs1560929669
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001243226.3(TCF4):c.74del (p.Asn25fs)
NM_001267550.2(TTN):c.11311+5023dup rs1454950897
NM_001267550.2(TTN):c.1800+1G>A rs397517497
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001302652.2(COA8):c.41dup (p.Leu15fs) rs759966247
NM_001308164.1(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001349.4(DARS1):c.1481G>A (p.Arg494His) rs967111310
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del) rs1559030991
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr) rs1554350554
NM_001797.4(CDH11):c.1895-599A>T
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_002016.2(FLG):c.8885del (p.Gln2962fs) rs1570897758
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002222.6(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr)
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) rs764287987
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003193.5(TBCE):c.332T>G (p.Val111Gly) rs1553336397
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) rs1556010444
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) rs1569264087
NM_003673.3(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_003737.4(DCHS1):c.7348del (p.Val2450fs)
NM_003805.5(CRADD):c.298+59160del
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004550.4(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs) rs1596207451
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_005051.3(QARS1):c.2085-3C>A rs1024765171
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005105.5(RBM8A):c.67+32G>C rs201779890
NM_005216.4(DDOST):c.696G>C (p.Gln232His) rs867045420
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005957.4(MTHFR):c.1163G>A (p.Arg388His) rs769953411
NM_005957.4(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.5(MTHFR):c.379C>T rs769381688
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006031.6(PCNT):c.607del (p.His203fs)
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu) rs775936961
NM_006920.6(SCN1A):c.2010+10G>C rs1574214734
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter) rs1555462184
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu) rs1553501873
NM_014365.3(HSPB8):c.419C>T (p.Thr140Ile)
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) rs1590962541
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_015548.5(DST):c.3319-1551C>T
NM_015665.6(AAAS):c.936_937del (p.Val313Leufs) rs1592513048
NM_015915.5(ATL1):c.1111dup (p.Met371fs) rs1566733927
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala)
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017654.4(SAMD9):c.2159del (p.Asn720fs) rs753146043
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017890.4(VPS13B):c.10360dup (p.Leu3454fs) rs1563509743
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del) rs750367160
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)
NM_021252.5(RAB18):c.549del (p.Gly184fs)
NM_021628.3(ALOXE3):c.1252G>T (p.Ala418Ser)
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu)
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022893.4(BCL11A):c.386-24278G>A rs11886868
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro) rs1555277061
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_030582.4(COL18A1):c.2416C>T (p.Arg806Ter)
NM_031448.5(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly)
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635
NM_181581.3(DUS4L):c.-349_-348insGGCCC rs1584977236
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) rs869025604
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_207118.2(GTF2H5):c.36-2A>G rs765378190

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