ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00016
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_012205.3(HAAO):c.21del (p.Arg8fs) rs1227604776 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter) rs1331075407
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001983.4(ERCC1):c.231del (p.Thr78fs) rs2123520960
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter) rs2045882525
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) rs2146098171
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_024596.5(MCPH1):c.2214+1G>A
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_130837.3(OPA1):c.2885_2983+8del
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362

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.