List of variants reported as likely pathogenic for epidermolytic ichthyosis

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)	rs147040026	0.00002
NM_000421.5(KRT10):c.1304T>G (p.Leu435Arg)
NM_000421.5(KRT10):c.1307T>C (p.Leu436Pro)
NM_000421.5(KRT10):c.1374-1G>A	rs2143131560
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)	rs2143150768
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)	rs1597822243
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)	rs57837128
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)	rs1555171247
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)	rs1941559064
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)	rs58928370
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile)	rs58928370
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys)	rs59429455

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