ClinVar Miner

List of variants studied for Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) rs752824698 0.00004
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) rs754730261 0.00003
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr) rs759671442 0.00002
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479 0.00001
NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile) rs2513757519
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg) rs750068600

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