ClinVar Miner

List of variants reported as benign for autosomal recessive disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) rs2955379 0.99481
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) rs35661993 0.01612
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) rs34029982 0.00725
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_004525.3(LRP2):c.79+7G>A rs376136995 0.00460
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004525.3(LRP2):c.9033-9A>G rs143892351 0.00119
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_004560.4(ROR2):c.937+16C>T rs112054737 0.00101
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543 0.00070
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys) rs75437827 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926 0.00037
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_001267550.2(TTN):c.67637-9A>G rs2047164551 0.00001
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001371333.1(DIABLO):c.51-318dup rs5801478
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_002160.4(TNC):c.6099C>T (p.Arg2033=) rs58547879
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.13519-40CT[12] rs138614485
NM_004525.3(LRP2):c.13519-40CT[13] rs138614485
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7]) rs76317765
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_079420.3(MYL1):c.1dup (p.Met1fs) rs544557603
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_181741.4(ORC4):c.763-9del rs66919703
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.