List of variants in gene COL7A1 reported as likely benign for Generalized dominant dystrophic epidermolysis bullosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)	rs149011081	0.00166
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)	rs139521707	0.00121
NM_000094.4(COL7A1):c.2679G>A (p.Ala893=)	rs374261595	0.00031
NM_000094.4(COL7A1):c.6502-10C>G	rs200193957	0.00018
NM_000094.4(COL7A1):c.7380+8G>A	rs560853464	0.00008
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=)	rs779192809

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