List of variants in gene SAMHD1 reported as pathogenic for Aicardi-Goutieres syndrome 5; Chilblain lupus 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.1411-2A>G	rs515726141	0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)	rs121434519	0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)	rs121434517	0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	rs267607027	0.00001
NM_015474.4(SAMHD1):c.626-1G>C	rs2146127849
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)	rs750807433
NM_015474.4(SAMHD1):c.724G>T (p.Glu242Ter)

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