ClinVar Miner

List of variants studied for Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005932.4(MIPEP):c.1728+7A>G	rs186873433	0.00066
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)	rs1057518741

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