ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 5

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_015474.4(SAMHD1):c.348+18T>G rs181987130 0.00206
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=) rs35102927 0.00102
NM_015474.4(SAMHD1):c.275+8T>A rs186225001 0.00086
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_015474.4(SAMHD1):c.1609-2del
NM_015474.4(SAMHD1):c.510-18del rs772577201
NM_015474.4(SAMHD1):c.626-64_626-63del rs529639777
NM_080628.3(TLDC2):c.*244del

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