ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131 0.00009
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134 0.00006
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) rs137853135 0.00001
NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro) rs137853133 0.00001
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) rs137853132
NM_005094.4(SLC27A4):c.716-1G>A rs1588559786
NM_005094.4(SLC27A4):c.988-19A>G
NM_005094.4(SLC27A4):c.988-2A>G rs764922350

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