ClinVar Miner

List of variants reported as benign for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.321C>T (p.Ala107=) rs149139260 0.00187
NM_005859.5(PURA):c.40G>C (p.Ala14Pro) rs1046152089 0.00024
NM_005859.5(PURA):c.127A>G (p.Ser43Gly) rs1335796595 0.00002
NM_005859.5(PURA):c.287A>G (p.Asn96Ser) rs1260956851 0.00002
NM_005859.5(PURA):c.124G>A (p.Gly42Ser)
NM_005859.5(PURA):c.155G>T (p.Gly52Val) rs763614822
NM_005859.5(PURA):c.192G>A (p.Lys64=)
NM_005859.5(PURA):c.278C>T (p.Ala93Val) rs1203312453
NM_005859.5(PURA):c.399C>T (p.Ala133=)
NM_005859.5(PURA):c.420C>G (p.Arg140=)
NM_005859.5(PURA):c.435C>T (p.Ser145=)
NM_005859.5(PURA):c.450C>G (p.Arg150=) rs201822080

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