List of variants in gene combination BIVM-ERCC5, ERCC5, LOC126861834 reported as uncertain significance for xeroderma pigmentosum group G

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)	rs142438319	0.00071
NM_000123.4(ERCC5):c.2190T>C (p.Asp730=)	rs148103512	0.00020
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)	rs773823921	0.00005
NM_000123.4(ERCC5):c.2268G>C (p.Gln756His)	rs777336956	0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val)	rs121434571	0.00003
NM_000123.4(ERCC5):c.2320-15C>T	rs886049940	0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)	rs770975661	0.00002
NM_000123.4(ERCC5):c.2208G>C (p.Leu736Phe)	rs201744259	0.00001
NM_000123.4(ERCC5):c.2295C>T (p.Thr765=)	rs201206202	0.00001
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)	rs751772171	0.00001
NM_000123.4(ERCC5):c.2182T>A (p.Trp728Arg)
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe)	rs1882817610
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=)	rs747408676
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)	rs755253596

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