ClinVar Miner

List of variants reported as pathogenic by Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000236.3(LIPC):c.1052-1G>C
NM_000527.5(LDLR):c.1338del (p.Ser447fs)
NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs)

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