ClinVar Miner

List of variants in gene HELLS studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018063.5(HELLS):c.31+20T>C rs10882474 0.47048
NM_018063.5(HELLS):c.231A>C (p.Ile77=) rs11188019 0.45728
NM_018063.5(HELLS):c.270A>G (p.Gln90=) rs58643119 0.02391
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_018063.5(HELLS):c.2T>C (p.Met1Thr) rs113154675 0.00481
NM_018063.5(HELLS):c.2182A>G (p.Ile728Val) rs116043383 0.00211
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser) rs148139900 0.00166
NM_018063.5(HELLS):c.1258C>G (p.Leu420Val) rs146569050 0.00069
NM_018063.5(HELLS):c.153+10G>T rs187469615 0.00038
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala) rs200482346 0.00018
NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly) rs145020994 0.00015
NM_018063.5(HELLS):c.360A>G (p.Glu120=) rs780887609 0.00001
NM_018063.5(HELLS):c.370+2T>A rs140316223 0.00001
NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr) rs1845596397
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) rs879253733
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) rs879253734
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del) rs879253737
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) rs879253736
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) rs879253735

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.