ClinVar Miner

List of variants in gene NSD1 reported as pathogenic for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170

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