ClinVar Miner

List of variants in gene NSUN2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) rs763793795 0.00012
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) rs375624381 0.00009
NM_017755.6(NSUN2):c.2137G>A (p.Glu713Lys) rs200232369 0.00008
NM_017755.6(NSUN2):c.2130G>T (p.Lys710Asn) rs765960947 0.00006
NM_017755.6(NSUN2):c.891-3T>C rs765461729 0.00006
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln) rs756450204 0.00005
NM_017755.6(NSUN2):c.736A>G (p.Ile246Val) rs370852216 0.00004
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly) rs762093598 0.00002
NM_017755.6(NSUN2):c.1135G>A (p.Ala379Thr) rs554332775 0.00001
NM_017755.6(NSUN2):c.1313G>A (p.Arg438His) rs371352625 0.00001
NM_017755.6(NSUN2):c.1880T>G (p.Val627Gly) rs1331428829 0.00001
NM_017755.6(NSUN2):c.1082T>A (p.Ile361Asn) rs1560976164
NM_017755.6(NSUN2):c.1095+5C>G
NM_017755.6(NSUN2):c.1166G>A (p.Arg389Gln)
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
NM_017755.6(NSUN2):c.1421C>T (p.Pro474Leu)
NM_017755.6(NSUN2):c.1484G>A (p.Gly495Asp)
NM_017755.6(NSUN2):c.1489A>G (p.Lys497Glu)
NM_017755.6(NSUN2):c.149A>C (p.His50Pro)
NM_017755.6(NSUN2):c.1500_1508del (p.Val501_Gly503del)
NM_017755.6(NSUN2):c.1511C>T (p.Pro504Leu) rs1333423261
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
NM_017755.6(NSUN2):c.1651C>T (p.Arg551Trp)
NM_017755.6(NSUN2):c.1652G>A (p.Arg551Gln)
NM_017755.6(NSUN2):c.1708G>A (p.Val570Met)
NM_017755.6(NSUN2):c.1822A>G (p.Ile608Val)
NM_017755.6(NSUN2):c.1834T>C (p.Tyr612His)
NM_017755.6(NSUN2):c.1870A>G (p.Met624Val)
NM_017755.6(NSUN2):c.1873G>C (p.Glu625Gln)
NM_017755.6(NSUN2):c.1945G>A (p.Ala649Thr)
NM_017755.6(NSUN2):c.1984G>A (p.Glu662Lys)
NM_017755.6(NSUN2):c.2066T>C (p.Phe689Ser)
NM_017755.6(NSUN2):c.2084G>A (p.Arg695Gln)
NM_017755.6(NSUN2):c.2128AAG[2] (p.Lys712del)
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
NM_017755.6(NSUN2):c.2210G>C (p.Arg737Thr)
NM_017755.6(NSUN2):c.2231C>T (p.Pro744Leu)
NM_017755.6(NSUN2):c.2260G>A (p.Val754Met)
NM_017755.6(NSUN2):c.226G>A (p.Ala76Thr)
NM_017755.6(NSUN2):c.2282C>A (p.Ala761Glu) rs375624381
NM_017755.6(NSUN2):c.296T>G (p.Phe99Cys) rs1340418092
NM_017755.6(NSUN2):c.360-5G>C
NM_017755.6(NSUN2):c.404T>C (p.Ile135Thr)
NM_017755.6(NSUN2):c.421C>G (p.His141Asp)
NM_017755.6(NSUN2):c.44G>A (p.Arg15Gln)
NM_017755.6(NSUN2):c.464C>G (p.Ser155Cys)
NM_017755.6(NSUN2):c.523C>T (p.Arg175Trp)
NM_017755.6(NSUN2):c.535A>G (p.Lys179Glu)
NM_017755.6(NSUN2):c.56C>T (p.Ala19Val)
NM_017755.6(NSUN2):c.601G>A (p.Asp201Asn)
NM_017755.6(NSUN2):c.670C>G (p.Leu224Val)
NM_017755.6(NSUN2):c.716T>A (p.Val239Asp)
NM_017755.6(NSUN2):c.73G>A (p.Gly25Ser)
NM_017755.6(NSUN2):c.740C>A (p.Pro247His)
NM_017755.6(NSUN2):c.757G>C (p.Val253Leu) rs776424531
NM_017755.6(NSUN2):c.842T>C (p.Ile281Thr)
NM_017755.6(NSUN2):c.872A>G (p.Asn291Ser)
NM_017755.6(NSUN2):c.891-6C>G
NM_017755.6(NSUN2):c.919G>A (p.Ala307Thr)
NM_017755.6(NSUN2):c.920C>T (p.Ala307Val)
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323

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