ClinVar Miner

List of variants in gene SLC27A4 studied for Ichthyosis prematurity syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser) rs111417655 0.02275
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.1523C>T (p.Thr508Met) rs765311079 0.00001
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) rs777972512
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr) rs2131266064
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs) rs746178942
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu) rs776594920
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His) rs764219842
NM_005094.4(SLC27A4):c.1628-1G>A
NM_005094.4(SLC27A4):c.166G>A (p.Gly56Ser)
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.839A>T (p.Asp280Val)
NM_005094.4(SLC27A4):c.868C>T (p.His290Tyr)
NM_005094.4(SLC27A4):c.988-19A>G rs2131265398
NM_005094.4(SLC27A4):c.988-2A>G rs764922350

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