ClinVar Miner

List of variants reported as uncertain significance for Alexander disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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

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