ClinVar Miner

List of variants in gene NSD1 reported as likely benign for Beckwith-Wiedemann syndrome

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Total variants: 21
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HGVS dbSNP
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.4(NSD1):c.2331A>C (p.Leu777=) rs772447375
NM_022455.4(NSD1):c.2340G>A (p.Ser780=) rs766703389
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2652A>G (p.Pro884=) rs1060504243
NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr) rs142703625
NM_022455.4(NSD1):c.3286C>T (p.His1096Tyr) rs202208033
NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.4665G>A (p.Leu1555=) rs779537845
NM_022455.4(NSD1):c.5382C>T (p.Phe1794=) rs878855076
NM_022455.4(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433
NM_022455.4(NSD1):c.7452A>G (p.Pro2484=) rs146676933
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7914C>T (p.Pro2638=) rs781650846
NM_022455.4(NSD1):c.8025A>G (p.Gln2675=) rs199895437

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