ClinVar Miner

List of variants reported as uncertain significance for Alexander disease

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NM_002055.5(GFAP):c.1171+420C>T rs180974014
NM_002055.5(GFAP):c.1171+5G>A rs759032212
NM_002055.5(GFAP):c.179C>A (p.Ala60Asp) rs886053020
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497
NM_002055.5(GFAP):c.352G>C (p.Ala118Pro) rs886053019
NM_002055.5(GFAP):c.381C>T (p.Leu127=) rs138320302
NM_002055.5(GFAP):c.43G>A (p.Val15Ile) rs146698039
NM_002055.5(GFAP):c.462G>A (p.Lys154=) rs886053018
NM_002055.5(GFAP):c.547C>T (p.Arg183Cys) rs201656479
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
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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