ClinVar Miner

List of variants studied for autosomal recessive disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_201384.3(PLEC):c.11394G>A (p.Arg3798=) rs368222729 0.00014
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) rs191413952 0.00011
NM_018699.4(PRDM5):c.1282+9C>T rs79915407 0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=) rs782222671 0.00008
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000260.4(MYO7A):c.3750+20C>T rs577104822 0.00005
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter) rs370101518 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) rs777486535 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys) rs761288523 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_020921.4(NIN):c.349G>A (p.Val117Met) rs374373270 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_201384.3(PLEC):c.10934G>A (p.Arg3645His) rs374762979 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln) rs1332662295 0.00001
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter) rs995036419 0.00001
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) rs1425787315 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys) rs1384400002 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser) rs777886341 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His) rs147503632 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln) rs373679838 0.00001
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys) rs778979756 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter) rs367572249 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_014906.5(PPM1E):c.*1892T>A rs1567903706 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His) rs1194702277 0.00001
NM_018249.6(CDK5RAP2):c.1627-18G>T rs762782636 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020921.4(NIN):c.6079-1686G>A rs1310109020 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) rs2041656946 0.00001
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) rs746107537 0.00001
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) rs189960711 0.00001
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) rs768461447 0.00001
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn) rs760233343 0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) rs755612537 0.00001
NM_206933.4(USH2A):c.6805+195T>G rs1193295201 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NC_000004.12:g.39348425AAGGG[(400_2000)]
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000083.3(CLCN1):c.2284+12C>G rs1472307602
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.979+1G>T rs1563078827
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile) rs1957644487
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg) rs1223784415
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) rs2072790056
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000352.6(ABCC8):c.3399+6G>A rs1954472209
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met) rs1279068945
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile) rs144887641
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val) rs2070968355
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter) rs1897359016
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala) rs2065771759
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) rs1244319253
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs) rs1671880064
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs) rs2094144598
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala) rs775845546
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001813.3(CENPE):c.2132-1G>C rs1754377539
NM_002160.4(TNC):c.6496-18del rs1419724369
NM_002160.4(TNC):c.890A>G (p.Asn297Ser) rs1554717312
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.73_88del (p.Gly25fs) rs1916687478
NM_002485.5(NBN):c.248T>A (p.Met83Lys) rs940160589
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) rs1643273662
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu) rs1777294344
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn) rs767712795
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys) rs1409823509
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) rs201375747
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter) rs373403222
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp) rs774357851
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val) rs757203397
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362
NM_020458.4(TTC7A):c.764+5G>A rs1180479579
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe) rs151233126
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024596.5(MCPH1):c.2002del (p.Asp668fs) rs1809112398
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln) rs1718978389
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs) rs1973248576
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) rs774464372
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs) rs2065449579
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly) rs2076305966
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1626A>G (p.Glu542=) rs1734453026
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu) rs1734780550
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter) rs1287548904
NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly) rs1432160044
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) rs1271495869
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) rs1811318008
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) rs1771488619
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) rs1785450007
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp) rs1850407138
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858
NM_182961.4(SYNE1):c.17203-5C>A rs886044642
NM_182961.4(SYNE1):c.20863-5T>G rs2082753195
NM_182961.4(SYNE1):c.888+2T>A rs754518742
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly) rs188684213
NM_201384.3(PLEC):c.435+3A>T rs1829221550
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11549del rs1660304704
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs) rs1657920193
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116

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.