List of variants reported as pathogenic for Hypotrichosis 8

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)	rs759807882	0.00001
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	rs121434309	0.00001
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	rs115596308	0.00001
NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)	rs766783183	0.00001
NM_000321.3(RB1):c.1695+30914_1695+30917dup	rs558917628
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)	rs879255262
NM_001162498.3(LPAR6):c.1A>G (p.Met1Val)	rs2138204557
NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs)	rs2542261609
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	rs1566212378
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	rs121434306
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)	rs121434307

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