ClinVar Miner

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

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_022455.4(NSD1):c.1252T>C (p.Leu418=) rs201329783
NM_022455.4(NSD1):c.1290G>A (p.Gln430=) rs535674820
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1574G>A (p.Arg525Gln) rs138405802
NM_022455.4(NSD1):c.1605A>G (p.Leu535=) rs746977419
NM_022455.4(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.4(NSD1):c.2148T>G (p.Thr716=) rs780294858
NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) rs771456995
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.3286C>T (p.His1096Tyr) rs202208033
NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.3500G>A (p.Arg1167His) rs763399938
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.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.4(NSD1):c.5510-10G>A rs767198805
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6429C>T (p.His2143=) rs121908068
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.6463+8C>A rs147592452
NM_022455.4(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865
NM_022455.4(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433
NM_022455.4(NSD1):c.7152G>C (p.Leu2384=) rs758847471
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

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