ClinVar Miner

List of variants in gene NSD1 studied for cardiovascular disorder

Included ClinVar conditions (1435):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser) rs143159061 0.00006
NM_022455.5(NSD1):c.4193-10T>C rs774927461 0.00001
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser) rs1760070315 0.00001
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) rs1763204241
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.5(NSD1):c.2148T>G (p.Thr716=) rs780294858
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) rs1765713589
NM_022455.5(NSD1):c.4766-1G>A rs1756517678
NM_022455.5(NSD1):c.5146+2dup rs1581468671
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
NM_022455.5(NSD1):c.7914C>T (p.Pro2638=) rs781650846
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492

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