ClinVar Miner

Variants in gene NSUN2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
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.622+7A>T rs16877704 0.03788
NM_017755.6(NSUN2):c.1602-19A>G rs13171975 0.02921
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_017755.6(NSUN2):c.96+17G>A rs377145649 0.00582
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.612C>A (p.Val204=) rs148924682 0.00233
NM_017755.6(NSUN2):c.2223C>T (p.Pro741=) rs137999360 0.00213
NM_017755.6(NSUN2):c.537+8A>G rs149276590 0.00190
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_017755.6(NSUN2):c.762C>T (p.Asp254=) rs763930477 0.00016
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_017755.5(NSUN2):c.-217delT rs8192124
NM_017755.6(NSUN2):c.1021+16_1021+19del rs374457414
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358

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