ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 5

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP
NC_000020.10:g.(?_35532540)_(35540975_?)del
NM_015474.3(SAMHD1):c.1174A>G (p.Lys392Glu)
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159
NM_015474.3(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1410+5G>T
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404
NM_015474.3(SAMHD1):c.1453C>T (p.Pro485Ser)
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1746+4_1746+15del rs1568758975
NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys)
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.3(SAMHD1):c.510G>C (p.Gly170=)
NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr)
NM_015474.3(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe)
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu)
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=) rs763408711
NM_015474.3(SAMHD1):c.728A>C (p.His243Pro)
NM_015474.3(SAMHD1):c.733A>G (p.Ile245Val)
NM_015474.3(SAMHD1):c.831A>T (p.Glu277Asp)
NM_080628.3(TLDC2):c.*216C>T

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