ClinVar Miner

List of variants reported as pathogenic for Multiple congenital anomalies-hypotonia-seizures syndrome 3 by 3billion, Medical Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00006
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter)	rs756632799	0.00001

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