List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.67660342del	rs753666055	0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)	rs757910862	0.00004
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	rs1335391766	0.00001
NM_000526.5(KRT14):c.355A>G (p.Met119Val)	rs61263401
NM_000526.5(KRT14):c.356T>G (p.Met119Arg)	rs28928893
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu)	rs752374133
NM_001283009.2(RTEL1):c.2852-1G>C	rs2145448526
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)	rs1602625000
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	rs1057519732
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)	rs1586015221
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)	rs1481562268
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)	rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)	rs1586237312
NM_004333.6(BRAF):c.779G>A (p.Arg260His)	rs1586213318
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)	rs2108328020

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