ClinVar Miner

List of variants reported as likely pathogenic for Multiple congenital anomalies-hypotonia-seizures syndrome 1 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)	rs535563062	0.00004
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg)	rs1251827296	0.00001
NM_176787.5(PIGN):c.654T>G (p.His218Gln)	rs1035743375

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