ClinVar Miner

List of variants in gene NSUN2 studied for Inborn genetic diseases

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
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.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
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.1879G>A (p.Val627Ile) rs2303708 0.00262
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.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.117C>T (p.Pro39=) rs138016489 0.00057
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_017755.6(NSUN2):c.258C>T (p.His86=) rs141912087 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_017755.6(NSUN2):c.486A>G (p.Glu162=) rs147958833 0.00022
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_017755.6(NSUN2):c.915C>T (p.Arg305=) rs527650370 0.00021
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) rs140467698 0.00019
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) rs150785220 0.00013
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) rs763793795 0.00012
NM_017755.6(NSUN2):c.2271C>T (p.Gly757=) rs375443052 0.00011
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.321G>A (p.Val107=) rs928522671 0.00005
NM_017755.6(NSUN2):c.796T>C (p.Leu266=) rs146035193 0.00005
NM_017755.6(NSUN2):c.1146C>T (p.His382=) rs376326834 0.00004
NM_017755.6(NSUN2):c.736A>G (p.Ile246Val) rs370852216 0.00004
NM_017755.6(NSUN2):c.2175C>T (p.Thr725=) rs930773662 0.00003
NM_017755.6(NSUN2):c.99C>G (p.Gly33=) rs748008367 0.00003
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.732C>T (p.Ser244=) rs535568776 0.00001
NM_017755.6(NSUN2):c.1071G>A (p.Trp357Ter)
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.1287A>G (p.Lys429=)
NM_017755.6(NSUN2):c.1344G>A (p.Glu448=)
NM_017755.6(NSUN2):c.1346_1352del (p.Thr449fs)
NM_017755.6(NSUN2):c.13T>G (p.Ser5Ala)
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.1779C>T (p.Ser593=)
NM_017755.6(NSUN2):c.1822A>G (p.Ile608Val)
NM_017755.6(NSUN2):c.1834T>C (p.Tyr612His)
NM_017755.6(NSUN2):c.1863T>G (p.Thr621=)
NM_017755.6(NSUN2):c.1870A>G (p.Met624Val)
NM_017755.6(NSUN2):c.1873G>C (p.Glu625Gln)
NM_017755.6(NSUN2):c.191del (p.Gly64fs)
NM_017755.6(NSUN2):c.1920A>G (p.Lys640=)
NM_017755.6(NSUN2):c.1923C>A (p.Leu641=)
NM_017755.6(NSUN2):c.1945G>A (p.Ala649Thr)
NM_017755.6(NSUN2):c.1984G>A (p.Glu662Lys)
NM_017755.6(NSUN2):c.2007C>T (p.Asp669=)
NM_017755.6(NSUN2):c.2066T>C (p.Phe689Ser)
NM_017755.6(NSUN2):c.2084G>A (p.Arg695Gln)
NM_017755.6(NSUN2):c.2119T>C (p.Leu707=)
NM_017755.6(NSUN2):c.2121G>A (p.Leu707=) rs199654328
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.2279C>A (p.Pro760Gln) rs61744358
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.366T>C (p.Pro122=)
NM_017755.6(NSUN2):c.404T>C (p.Ile135Thr)
NM_017755.6(NSUN2):c.417G>A (p.Ser139=)
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.645T>C (p.Asp215=)
NM_017755.6(NSUN2):c.670C>G (p.Leu224Val)
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter) rs387907190
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.75T>C (p.Gly25=)
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
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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