List of variants reported as pathogenic for hereditary skin disorder by Division of Biology and Genetics, University of Brescia

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys)	rs575528363	0.00002
NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter)	rs1691965570
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)	rs1956563926
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)	rs1956462432

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