List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	rs104894415	0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	rs121908450	0.00001
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
NC_000023.11:g.70027876_70027911del	rs397516665
NC_000023.11:g.70027902_70027919del	rs397516668
NM_001854.4(COL11A1):c.3816+1G>C	rs398122828
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)	rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)	rs397507475
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	rs1178702025
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)	rs557166582
NM_024589.3(ROGDI):c.507del (p.Glu170fs)	rs786205124
NM_024589.3(ROGDI):c.532-2A>T	rs786205119

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