ClinVar Miner

List of variants in gene NIN reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_016350.4(NIN):c.2987A>G (p.Asn996Ser) rs387907308
NM_020921.3(NIN):c.2482del (p.Arg828fs) rs747680111
NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg) rs187464517

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