ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) rs1295466248 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_000124.4(ERCC6):c.-15+3G>T rs1010201937
NM_000207.3(INS):c.26C>G (p.Pro9Arg) rs1564912403
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) rs750990843
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) rs1695634838
NM_001378454.1(ALMS1):c.11718del (p.Gly3906_Ile3907insTer) rs1573053394
NM_001378454.1(ALMS1):c.5726del (p.Glu1909fs) rs1572936972
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro) rs1131691778
NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_014425.5(INVS):c.778C>T (p.His260Tyr)
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)

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.