ClinVar Miner

List of variants in gene SAMHD1 reported as likely benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=) rs1601130032
NM_015474.4(SAMHD1):c.1154+9C>T rs377745198
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=) rs151189478
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=) rs371992324
NM_015474.4(SAMHD1):c.1608+10T>A rs1467936950
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075
NM_015474.4(SAMHD1):c.208+8C>T rs543987630
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) rs149267802
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=) rs267607027
NM_015474.4(SAMHD1):c.513G>T (p.Val171=) rs903077482
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) rs140804613
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=) rs754519810
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168

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