ClinVar Miner

List of variants studied for autosomal recessive disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375 0.00006
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765 0.00002
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042 0.00002
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9372-1G>A rs1558111861 0.00001
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) rs1060499692
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001080476.3(GRXCR1):c.385-2A>G rs771844359
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) rs1938280351
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del) rs1572920649
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr) rs144700897
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) rs1554095500
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.4286+1G>T rs2047400808
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_015102.5(NPHP4):c.750dup (p.Ser251fs) rs754862360
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) rs1566507605
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8798-2A>T rs1582470309
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu) rs1164973591
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_201384.3(PLEC):c.1419-10G>T rs1827885925
NM_206933.4(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575

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