ClinVar Miner

List of variants studied for autosomal recessive disease by Suma Genomics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter) rs769417807 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs) rs1180888940
NM_001127671.2(LIFR):c.2497+1G>A
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1575175498
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) rs797044907
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) rs2154008646
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys) rs1234992727
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_014168.4(METTL5):c.406+5G>A rs2105721464
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_015311.3(OBSL1):c.2164del (p.Asp722fs) rs1696816233
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val) rs772644485
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu) rs750000898
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del) rs2103862688
NM_016194.4(GNB5):c.239-2A>C rs1379641378
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) rs2139289899
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) rs144732839
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_025074.7(FRAS1):c.5166del (p.Val1723fs) rs2110390266
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del) rs886041062
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) rs2102817952
NM_170707.4(LMNA):c.784G>A (p.Glu262Lys) rs397517909
NM_198999.3(SLC26A5):c.949del (p.Val317fs) rs770663172

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.