ClinVar Miner

List of variants reported for Mucolipidosis type IV by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.31+1G>A rs1057516246 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020533.3(MCOLN1):c.984+1G>A rs767950930 0.00001
NM_020533.2(MCOLN1):c.-1015_789del
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1134+2T>C rs1555742162
NM_020533.3(MCOLN1):c.1135-1G>A rs1057516458
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1135-2A>G rs1057517335
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) rs1057516531
NM_020533.3(MCOLN1):c.1476del (p.Phe493fs) rs1555742362
NM_020533.3(MCOLN1):c.1621del (p.Ile541fs) rs1555742787
NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del) rs1555742834
NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer) rs1555742837
NM_020533.3(MCOLN1):c.32-2A>G rs1555741545
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_020533.3(MCOLN1):c.681-2A>G rs1057517453
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del) rs1555742012
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) rs1057517040
NM_020533.3(MCOLN1):c.973_984+10del rs779141908

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.