List of variants reported as pathogenic by Children's Hospital of Soochow University, Soochow University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000082.4(ERCC8):c.1042-1G>A	rs897535441	0.00001
NM_000082.4(ERCC8):c.78-2A>T	rs748379243
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del)	rs1558557341
NM_000478.6(ALPL):c.18del (p.Val7fs)	rs1558543066

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