List of variants studied for ectodermal dysplasia syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_016004.5(IFT52):c.157G>A (p.Val53Met)	rs137979762	0.00043
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)	rs764053825	0.00004
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)	rs544215765	0.00003
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	rs104894415	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter)	rs527255616	0.00001
NM_000526.5(KRT14):c.374G>A (p.Arg125His)	rs58330629
NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)
NM_001399.5(EDA):c.634A>G (p.Thr212Ala)
NM_001793.6(CDH3):c.830del (p.Gly277fs)	rs724159985
NM_003722.5(TP63):c.1670G>T (p.Gly557Val)	rs2108864735
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	rs28931594
NM_004985.5(KRAS):c.175_176delinsTT (p.Ala59Leu)
NM_013386.5(SLC25A24):c.424G>A (p.Val142Met)	rs2101618595
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg)	rs1566591073
NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del)	rs1555698652
Single allele

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