ClinVar Miner

List of variants in gene NSD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442 0.00003
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.1694C>T (p.Pro565Leu)
NM_022455.5(NSD1):c.1711T>G (p.Ser571Ala)
NM_022455.5(NSD1):c.2209A>G (p.Thr737Ala)
NM_022455.5(NSD1):c.2687A>G (p.Gln896Arg) rs1581321959
NM_022455.5(NSD1):c.3331G>A (p.Asp1111Asn)
NM_022455.5(NSD1):c.346T>G (p.Leu116Val) rs1581090282
NM_022455.5(NSD1):c.3546C>G (p.Asn1182Lys) rs1562213440
NM_022455.5(NSD1):c.3637A>G (p.Ile1213Val)
NM_022455.5(NSD1):c.3760C>A (p.Pro1254Thr) rs1035426339
NM_022455.5(NSD1):c.3797-9_3797-7del
NM_022455.5(NSD1):c.3833G>A (p.Ser1278Asn) rs1765400132
NM_022455.5(NSD1):c.3975T>C (p.Ala1325=)
NM_022455.5(NSD1):c.4378+5G>A
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4606G>A (p.Gly1536Ser) rs1766459877
NM_022455.5(NSD1):c.4759C>T (p.Arg1587Cys) rs764613088
NM_022455.5(NSD1):c.658G>T (p.Gly220Cys) rs755449099
NM_022455.5(NSD1):c.6899del (p.Ala2300fs) rs1581564208
NM_022455.5(NSD1):c.7234G>T (p.Ala2412Ser)
NM_022455.5(NSD1):c.7502C>T (p.Pro2501Leu) rs950485640

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