ClinVar Miner

List of variants in gene SLC27A4 reported as likely pathogenic for Ichthyosis prematurity syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) rs765311079 0.00001
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu) rs776594920
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421

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