ClinVar Miner

List of variants in gene NSD2 studied for Inborn genetic diseases

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.1733C>G (p.Ala578Gly) rs140182983 0.00075
NM_001042424.3(NSD2):c.884A>T (p.Gln295Leu) rs144431814 0.00068
NM_001042424.3(NSD2):c.904C>T (p.Pro302Ser) rs202207779 0.00026
NM_001042424.3(NSD2):c.2423C>G (p.Ser808Cys) rs757383616 0.00014
NM_001042424.3(NSD2):c.3016T>C (p.Tyr1006His) rs142100377 0.00014
NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala) rs144335923 0.00013
NM_001042424.3(NSD2):c.4024C>T (p.Pro1342Ser) rs535066596 0.00011
NM_001042424.3(NSD2):c.940A>G (p.Ile314Val) rs371529672 0.00010
NM_001042424.3(NSD2):c.1585A>C (p.Thr529Pro) rs145704598 0.00006
NM_001042424.3(NSD2):c.1081A>C (p.Lys361Gln) rs199762353 0.00004
NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn) rs753120179 0.00004
NM_001042424.3(NSD2):c.664G>A (p.Val222Ile) rs150146753 0.00003
NM_001042424.3(NSD2):c.274G>A (p.Gly92Ser) rs764038848 0.00002
NM_001042424.3(NSD2):c.4043C>T (p.Pro1348Leu) rs370127436 0.00002
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001042424.3(NSD2):c.958G>A (p.Ala320Thr) rs747603711 0.00001
NM_001042424.3(NSD2):c.1183A>G (p.Ile395Val)
NM_001042424.3(NSD2):c.1253T>C (p.Ile418Thr)
NM_001042424.3(NSD2):c.1268C>T (p.Pro423Leu)
NM_001042424.3(NSD2):c.1277C>T (p.Thr426Met)
NM_001042424.3(NSD2):c.1352G>A (p.Ser451Asn)
NM_001042424.3(NSD2):c.1394A>G (p.Gln465Arg)
NM_001042424.3(NSD2):c.1465T>A (p.Ser489Thr)
NM_001042424.3(NSD2):c.1484G>A (p.Ser495Asn)
NM_001042424.3(NSD2):c.1522C>G (p.Leu508Val)
NM_001042424.3(NSD2):c.1592G>C (p.Arg531Thr)
NM_001042424.3(NSD2):c.1760C>T (p.Thr587Met)
NM_001042424.3(NSD2):c.1885T>C (p.Ser629Pro)
NM_001042424.3(NSD2):c.1886C>T (p.Ser629Leu)
NM_001042424.3(NSD2):c.209C>A (p.Ala70Asp)
NM_001042424.3(NSD2):c.2291G>T (p.Cys764Phe)
NM_001042424.3(NSD2):c.229G>A (p.Asp77Asn)
NM_001042424.3(NSD2):c.2475C>G (p.His825Gln)
NM_001042424.3(NSD2):c.2494A>G (p.Ser832Gly)
NM_001042424.3(NSD2):c.2605T>C (p.Cys869Arg) rs1553876452
NM_001042424.3(NSD2):c.2650A>G (p.Ile884Val)
NM_001042424.3(NSD2):c.277G>A (p.Ala93Thr)
NM_001042424.3(NSD2):c.2807T>C (p.Val936Ala)
NM_001042424.3(NSD2):c.2881+5G>A
NM_001042424.3(NSD2):c.2893G>A (p.Ala965Thr)
NM_001042424.3(NSD2):c.28C>G (p.Leu10Val)
NM_001042424.3(NSD2):c.2903G>A (p.Arg968His) rs1553876858
NM_001042424.3(NSD2):c.2909G>A (p.Arg970His)
NM_001042424.3(NSD2):c.304T>A (p.Ser102Thr)
NM_001042424.3(NSD2):c.3148G>A (p.Glu1050Lys)
NM_001042424.3(NSD2):c.32C>G (p.Ser11Cys)
NM_001042424.3(NSD2):c.3512C>A (p.Ala1171Glu)
NM_001042424.3(NSD2):c.3518C>T (p.Thr1173Met)
NM_001042424.3(NSD2):c.3860T>C (p.Val1287Ala)
NM_001042424.3(NSD2):c.3931A>G (p.Thr1311Ala)
NM_001042424.3(NSD2):c.3981C>G (p.Asp1327Glu)
NM_001042424.3(NSD2):c.4020G>C (p.Lys1340Asn) rs199956960
NM_001042424.3(NSD2):c.4027C>T (p.Pro1343Ser)
NM_001042424.3(NSD2):c.4032G>C (p.Glu1344Asp)
NM_001042424.3(NSD2):c.4048_4053del (p.Gly1350_Lys1351del)
NM_001042424.3(NSD2):c.4069G>A (p.Gly1357Ser)
NM_001042424.3(NSD2):c.4075C>T (p.Arg1359Trp)
NM_001042424.3(NSD2):c.51G>C (p.Lys17Asn)
NM_001042424.3(NSD2):c.628A>G (p.Thr210Ala)
NM_001042424.3(NSD2):c.752A>G (p.Lys251Arg)
NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter) rs1719469952
NM_001042424.3(NSD2):c.929T>A (p.Leu310Gln)
NM_001042424.3(NSD2):c.959C>T (p.Ala320Val)

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