List of variants in gene combination BIVM-ERCC5, ERCC5 reported as likely benign for Xeroderma pigmentosum, group G

Minimum submission review status:		Collection method:
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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	rs4150313	0.02531
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	rs4150314	0.00931
NM_000123.4(ERCC5):c.945C>T (p.His315=)	rs34061299	0.00370
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu)	rs2227870	0.00325
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	rs9518857	0.00270
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	rs148856875	0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	rs4150319	0.00158
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)	rs2227871	0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)	rs4150318	0.00111
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	rs150791877	0.00094
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=)	rs4150317	0.00011
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)	rs376411022	0.00002
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=)	rs575691378	0.00001
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)	rs574826021	0.00001
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)	rs371937705	0.00001

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