List of variants reported as pathogenic for Hypotrichosis 7

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	rs201249971	0.00005
NG_012183.1:g.(2711_2742)_(3942_3973)del
NM_139248.3(LIPH):c.346_350del (p.Ile116fs)	rs2148959539
NM_139248.3(LIPH):c.659_660del (p.Ile220fs)	rs559648418
NM_139248.3(LIPH):c.886+405_1094+962del

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