ClinVar Miner

List of variants studied for Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1771-6C>G rs115020338

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