List of variants reported as likely pathogenic for hereditary epidermal appendage anomaly by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)	rs780546933
NM_002582.4(PARN):c.758_759del (p.Glu253fs)	rs2151787383
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	rs727502904

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