ClinVar Miner

List of variants reported as likely pathogenic by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 448
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HGVS dbSNP
GRCh37/hg19 14q21.1(chr14:39615245-39625047)x1
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) rs28933389
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000091.4(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328
NM_000095.3(COMP):c.1403G>C (p.Cys468Ser)
NM_000104.3(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000132.3(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000137.4(FAH):c.53C>T (p.Pro18Leu)
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)
NM_000140.4(FECH):c.854A>G (p.Gln285Arg) rs370708663
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1132+5G>A rs770302956
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.5(SGCB):c.1_2del rs886042503
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe)
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys) rs377267777
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val) rs140967767
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser)
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000283.3(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly)
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000381.4(MID1):c.1142-1G>T
NM_000381.4(MID1):c.388G>A (p.Ala130Thr)
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.3(ERCC2):c.816-2A>G rs746795177
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) rs104893843
NM_000406.3(GNRHR):c.31C>A (p.Gln11Lys) rs776834867
NM_000426.3(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.3(LAMA2):c.8245-2A>G rs914395925
NM_000432.3(MYL2):c.403-1G>C rs199474813
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_000448.2(RAG1):c.2488A>T (p.Lys830Ter) rs755551812
NM_000486.5(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000494.4(COL17A1):c.2336-2A>G rs1478395810
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000521.4(HEXB):c.1082+5G>A rs5030731
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.3(RYR1):c.11314C>T rs763112609
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter) rs1329427406
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_001001547.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227
NM_001001547.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) rs72549334
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) rs572292275
NM_001003679.3(LEPR):c.1835G>A (p.Arg612His) rs144159890
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001037333.3(CYFIP2):c.1684C>T (p.Arg562Trp)
NM_001040142.2(SCN2A):c.4962G>T (p.Met1654Ile)
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001072.4(UGT1A6):c.862-6073T>G rs35003977
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001101.5(ACTB):c.547C>G (p.Arg183Gly)
NM_001101.5(ACTB):c.802G>T (p.Gly268Cys)
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly)
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001122630.2(CDKN1C):c.787+2T>A
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001166107.1(HMGCS2):c.560-633G>A rs137852638
NM_001170535.3(ATAD3A):c.964-1G>T
NM_001171603.1(PREPL):c.1155+1G>A rs758019788
NM_001190737.2(NFIB):c.901C>T (p.Arg301Ter)
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val)
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter)
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)
NM_001291969.2(POLH):c.-6dup rs752080248
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu)
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr)
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) rs201258823
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) rs200913682
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)
NM_001904.4(CTNNB1):c.1118del (p.Pro373fs)
NM_002016.1(FLG):c.94G>T (p.Glu32Ter) rs114733570
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) rs587777171
NM_002501.4(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_002501.4(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_002585.3(PBX1):c.701G>C (p.Arg234Pro) rs1553248112
NM_002641.3(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs)
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) rs782007828
NM_003239.5(TGFB3):c.446C>A (p.Ala149Glu)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314
NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) rs1369567672
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004006.2(DMD):c.9225-647A>G rs398124091
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) rs145596167
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849
NM_004970.2(IGFALS):c.827A>G (p.Asn276Ser) rs551618643
NM_005211.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005413.4(SIX3):c.581G>C (p.Arg194Pro)
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter)
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006086.4(TUBB3):c.730G>T (p.Gly244Cys)
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722
NM_006261.4(PROP1):c.109+1G>T rs1214465435
NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) rs766673446
NM_006371.5(CRTAP):c.471+2C>A rs137853943
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_006907.4(PYCR1):c.633+1G>C rs144346996
NM_007055.4(POLR3A):c.3905G>T (p.Gly1302Val)
NM_007194.4(CHEK2):c.1260-1G>A rs786201906
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014049.4(ACAD9):c.359delT rs863224844
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012
NM_014264.5(PLK4):c.126+1G>A
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile)
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_015125.5(CIC):c.680A>G (p.Asn227Ser)
NM_015166.3(MLC1):c.274C>T (p.Pro92Ser) rs121908345
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr)
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) rs121909244
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017775.4(TTC19):c.581+1_581+5del
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017780.4(CHD7):c.3547A>C (p.Lys1183Gln)
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890
NM_021939.4(FKBP10):c.918-6T>G
NM_022041.4(GAN):c.633+1G>A
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022356.3(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362
NM_024665.6(TBL1XR1):c.86G>A (p.Gly29Asp) rs879255421
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024809.5(TCTN2):c.1506-2A>G rs374349989
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032634.4(PIGO):c.2854+1G>A
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286
NM_138387.3(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.834+1G>T rs749315029
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240
NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139025.4(ADAMTS13):c.330+1G>A rs375415632
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) rs148312697
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144966.5(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794
NM_152296.5(ATP1A3):c.1076C>A (p.Ser359Tyr)
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_172056.2(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_173170.1(IL36RN):c.227C>T (p.Pro76Leu) rs139497891
NM_173591.4(OTOGL):c.823_824insCATCGCTATGTTTGCA (p.Asn275fs)
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)
NM_177559.3(CSNK2A1):c.997C>T (p.Arg333Ter)
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter) rs570916267
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_199242.2(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_201631.4(TGM5):c.255del (p.Ser86fs) rs778322388
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NR_023343.1(RNU4ATAC):n.48G>A rs863225422
NR_023343.1(RNU4ATAC):n.6T>C

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