ClinVar Miner

List of variants in gene GFAP reported as uncertain significance for Alexander disease

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 25
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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.893C>T (p.Ser298Phe) rs760672791 0.00009
NM_002055.5(GFAP):c.1171+420C>T rs180974014 0.00005
NM_002055.5(GFAP):c.1171+5G>A rs759032212 0.00003
NM_002055.5(GFAP):c.504C>A (p.Asn168Lys) rs745894599 0.00002
NM_002055.5(GFAP):c.1171+144T>C rs560230868 0.00001
NM_002055.5(GFAP):c.362G>A (p.Arg121Gln) rs769619261 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.793A>G (p.Thr265Ala) rs758250219 0.00001
NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly)
NM_002055.5(GFAP):c.1171+472G>C rs748860341
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.287C>T (p.Ala96Val)
NM_002055.5(GFAP):c.371G>A (p.Arg124Gln)
NM_002055.5(GFAP):c.476C>T (p.Thr159Ile)
NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) rs780225821
NM_002055.5(GFAP):c.625C>G (p.Arg209Gly)
NM_002055.5(GFAP):c.719C>T (p.Thr240Met)
NM_002055.5(GFAP):c.930G>A (p.Met310Ile) rs755602073
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) rs983143417

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