List of variants in gene C2 reported as pathogenic for not provided

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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: 13

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HGVS	dbSNP	gnomAD frequency
NC_000006.11:g.(?_31895530)_(31905256_?)del
NM_000063.6(C2):c.1102C>T (p.Arg368Ter)	rs866130958
NM_000063.6(C2):c.1215T>A (p.Tyr405Ter)
NM_000063.6(C2):c.1654C>T (p.Gln552Ter)
NM_000063.6(C2):c.235_236del (p.Leu79fs)
NM_000063.6(C2):c.275_276del (p.Pro92fs)
NM_000063.6(C2):c.37del (p.Leu13fs)	rs1394227134
NM_000063.6(C2):c.630T>A (p.Tyr210Ter)
NM_000063.6(C2):c.768C>G (p.Tyr256Ter)
NM_000063.6(C2):c.795_796del (p.Ser266fs)
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000063.6(C2):c.917del (p.Met306fs)
NM_000063.6(C2):c.970G>T (p.Glu324Ter)

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