ClinVar Miner

List of variants in gene NSUN2 reported as likely benign for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323

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