List of variants reported as pathogenic for Ichthyosis prematurity syndrome by OMIM

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Total variants: 11

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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.1208G>A (p.Cys403Tyr)	rs2131266064
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)	rs746178942
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)	rs764219842
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	rs2131265398
NM_005094.4(SLC27A4):c.988-2A>G	rs764922350

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