ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) rs376183542 0.00005
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val) rs751938579 0.00005
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165 0.00004
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp) rs768691853 0.00004
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3322A>G (p.Ser1108Gly) rs771989860 0.00003
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys) rs745435760 0.00002
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg) rs199473641 0.00002
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn) rs45491996 0.00002
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys) rs759924541 0.00001
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro) rs2061581608
NM_000335.5(SCN5A):c.2848C>T (p.Pro950Ser) rs794728870
NM_000335.5(SCN5A):c.2973G>A (p.Lys991=) rs1064796576
NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp) rs727503408
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3119G>A (p.Gly1040Glu) rs2061571787
NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp) rs1430691171
NM_000335.5(SCN5A):c.3165_3170del (p.Thr1056_Asp1057del) rs2125870744
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del) rs779953279
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3377G>A (p.Gly1126Glu) rs1434672265

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.