ClinVar Miner

List of variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 3 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) rs367629282 0.00002
NM_015937.6(PIGT):c.17del (p.Pro6fs)

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