List of variants in gene LOC130065805, SAMHD1 studied for Aicardi-Goutieres syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.208+158A>G	rs6030389	0.90232
NM_015474.4(SAMHD1):c.208+16G>A	rs778400853	0.00001
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
NC_000020.11:g.(?_36951416)_(36951663_?)del
NC_000020.11:g.36948745_36957728del
NM_015474.4(SAMHD1):c.208+16G>T
NM_015474.4(SAMHD1):c.208+18G>A

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