ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 5; Chilblain lupus 2

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter) rs752442185 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.580C>T (p.Arg194Ter) rs1300333132 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1615C>T (p.Gln539Ter)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.664_673del (p.Ile222fs)
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) rs750807433
NM_015474.4(SAMHD1):c.724G>T (p.Glu242Ter)
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)

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