ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Genetics, ASUI Udine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NC_000012.12:g.2044152_2088870del
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser)	rs1554074677

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