List of variants reported as pathogenic for Incontinentia pigmenti syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
IKBKG, 2-BP DEL, 1182TT
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
NC_000023.11:g.(154556377_154558531)_(154565046_?)del
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)	rs1569556615
NM_001099857.5(IKBKG):c.1117+1G>A	rs2071161458
NM_001099857.5(IKBKG):c.1117+5G>C	rs1557236796
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)	rs2071167272
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	rs782178147
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)	rs2070949441
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	rs137853327
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)	rs137853322
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	rs137853321
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)	rs137853323
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	rs2071063100
NM_001099857.5(IKBKG):c.518+866C>T	rs2071101767
NM_001099857.5(IKBKG):c.519-3_519dup	rs1557236445
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)	rs2071133474

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