List of variants reported as uncertain significance for Epidermolytic ichthyosis

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe)	rs151149062	0.00021
NM_006121.4(KRT1):c.*372G>A	rs886049633	0.00004
NM_006121.4(KRT1):c.257G>A (p.Arg86His)	rs886049637	0.00003
NM_006121.4(KRT1):c.*72G>T	rs1486027458	0.00001
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)	rs371843007	0.00001
NM_006121.4(KRT1):c.477G>C (p.Gln159His)	rs886049635	0.00001
NM_006121.4(KRT1):c.729C>T (p.Asp243=)	rs201069649	0.00001
NM_006121.4(KRT1):c.*275G>A	rs886049634
NM_006121.4(KRT1):c.1002T>C (p.Asn334=)	rs1941526192
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)	rs1941504357
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)	rs1342761835
NM_006121.4(KRT1):c.302G>T (p.Gly101Val)	rs147840212
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp)	rs886049636

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