ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134

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