ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs) rs774594582
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_013403.3(STRN4):c.282+78C>T rs1555735545
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NR_023317.1(RNU7-1):n.28C>T rs180837208
Single allele

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.