ClinVar Miner

List of variants in gene NSUN2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_017755.6(NSUN2):c.2223C>T (p.Pro741=) rs137999360 0.00213
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.258C>T (p.His86=) rs141912087 0.00044
NM_017755.6(NSUN2):c.486A>G (p.Glu162=) rs147958833 0.00022
NM_017755.6(NSUN2):c.2271C>T (p.Gly757=) rs375443052 0.00011
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) rs375624381 0.00009
NM_017755.6(NSUN2):c.2175C>T (p.Thr725=) rs930773662 0.00003
NM_017755.6(NSUN2):c.1313G>A (p.Arg438His) rs371352625 0.00001
NM_017755.6(NSUN2):c.135C>T (p.Asn45=)
NM_017755.6(NSUN2):c.1593A>G (p.Pro531=)
NM_017755.6(NSUN2):c.2037A>T (p.Gly679=) rs1208243094
NM_017755.6(NSUN2):c.273C>T (p.Leu91=)
NM_017755.6(NSUN2):c.975T>G (p.Pro325=)

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