List of variants in gene TMEM43, XPC studied for Xeroderma pigmentosum, group C

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	rs2228001	0.64910
NM_004628.5(XPC):c.*96C>G	rs2229090	0.22357
NM_004628.5(XPC):c.*618A>G	rs2470458	0.16965
NM_004628.5(XPC):c.*192T>C	rs3731178	0.01085
NM_004628.5(XPC):c.2421-11T>C	rs3731167	0.00005
NM_004628.5(XPC):c.*133G>A	rs377250919	0.00004
NM_004628.5(XPC):c.*611T>A	rs2470352
NM_004628.5(XPC):c.*684G>C	rs1126547

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