ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 5 by OMIM

Included ClinVar conditions (2):
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Total variants: 11
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NM_015474.3(SAMHD1):c.1609-1G>C rs515726143
NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519
NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) rs121434520
NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) rs121434521

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