ClinVar Miner

List of variants reported as uncertain significance for Alexander disease

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_002055.5(GFAP):c.381C>T (p.Leu127=) rs138320302 0.00015
NM_002055.5(GFAP):c.287C>T (p.Ala96Val) rs552590923 0.00008
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00008
NM_002055.5(GFAP):c.625C>T (p.Arg209Trp) rs146725018 0.00006
NM_002055.5(GFAP):c.1171+420C>T rs180974014 0.00005
NM_002055.5(GFAP):c.362G>A (p.Arg121Gln) rs769619261 0.00003
NM_002055.5(GFAP):c.1171+5G>A rs759032212 0.00002
NM_002055.5(GFAP):c.504C>A (p.Asn168Lys) rs745894599 0.00002
NM_002055.5(GFAP):c.1127+5G>A rs1057107808 0.00001
NM_002055.5(GFAP):c.1171+144T>C rs560230868 0.00001
NM_002055.5(GFAP):c.1225G>A (p.Val409Met) rs1485688823 0.00001
NM_002055.5(GFAP):c.462-2A>G rs1338213981 0.00001
NM_002055.5(GFAP):c.697G>A (p.Ala233Thr) rs1220287768 0.00001
NM_002055.5(GFAP):c.760G>A (p.Glu254Lys) rs745784904 0.00001
NM_002055.5(GFAP):c.793A>G (p.Thr265Ala) rs758250219 0.00001
NM_002055.5(GFAP):c.882C>A (p.Cys294Ter) rs200034725 0.00001
NM_002055.5(GFAP):c.930G>A (p.Met310Ile) rs755602073 0.00001
NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly) rs1295139112
NM_002055.5(GFAP):c.1108C>G (p.Leu370Val)
NM_002055.5(GFAP):c.1171+472G>C rs748860341
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp) rs771283454
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.223G>A (p.Glu75Lys) rs2508949834
NM_002055.5(GFAP):c.476C>T (p.Thr159Ile) rs534444398
NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) rs780225821
NM_002055.5(GFAP):c.530A>G (p.Asp177Gly)
NM_002055.5(GFAP):c.625C>G (p.Arg209Gly) rs146725018
NM_002055.5(GFAP):c.646G>A (p.Ala216Thr)
NM_002055.5(GFAP):c.650G>A (p.Arg217Gln)
NM_002055.5(GFAP):c.719C>T (p.Thr240Met) rs777180711
NM_002055.5(GFAP):c.898C>A (p.Arg300Ser)
NM_002055.5(GFAP):c.909C>G (p.Asn303Lys)
NM_002055.5(GFAP):c.913T>C (p.Ser305Pro) rs2508934437
NM_002055.5(GFAP):c.934G>A (p.Glu312Lys) rs763868966
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) rs983143417

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