ClinVar Miner

List of variants in gene NSUN2 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358

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