ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as benign for Potassium aggravated myotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_000334.4(SCN4A):c.*122G>A rs2228997
NM_000334.4(SCN4A):c.*1271T>A rs2727277
NM_000334.4(SCN4A):c.*1357A>G rs113012761
NM_000334.4(SCN4A):c.*1394_*1403dupATATATGTGT rs112489358
NM_000334.4(SCN4A):c.*1427T>C rs2727278
NM_000334.4(SCN4A):c.*1689_*1690dupTG rs66908473
NM_000334.4(SCN4A):c.*1737A>G rs16947276
NM_000334.4(SCN4A):c.*22A>G rs2228995
NM_000334.4(SCN4A):c.*563G>A rs2532112
NM_000334.4(SCN4A):c.*710T>C rs2532111
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3318+12C>A rs13341114
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906

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.