List of variants reported as pathogenic for ectodermal dysplasia syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00021
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289	0.00002
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110

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