ClinVar Miner

List of variants studied for Sotos syndrome by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.1743del (p.Glu581fs) rs794729232
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) rs2149846817
NM_022455.5(NSD1):c.3922-1G>C rs1581407682
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5303+1G>A rs587784141
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) rs1581527842
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) rs1581563059
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075

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