ClinVar Miner

List of variants in gene SAMHD1 reported as uncertain significance for Aicardi Goutieres syndrome

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.275+8T>A rs186225001 0.00086
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) rs149267802 0.00039
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) rs140804613 0.00034
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075 0.00007
NM_015474.4(SAMHD1):c.208+8C>T rs543987630 0.00004
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) rs767971429 0.00004
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609 0.00003
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met) rs529220118 0.00002
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066 0.00001
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys) rs776994886 0.00001
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360 0.00001
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) rs779491090 0.00001
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser) rs141599277 0.00001
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His) rs1274894909 0.00001
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys) rs758586131 0.00001
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) rs1235922763 0.00001
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) rs1306109528 0.00001
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248 0.00001
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) rs748150321 0.00001
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) rs781223072 0.00001
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe) rs1053324143 0.00001
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=) rs763408711 0.00001
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val) rs754150741 0.00001
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu) rs551472065 0.00001
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu) rs1300702859 0.00001
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) rs755046462 0.00001
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn) rs546930607
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys) rs138089277
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) rs755673943
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) rs1215408383
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr) rs1046544176
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu) rs1448113794
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) rs752442185
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) rs775844501
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser) rs765879627
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=) rs774333580

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