ClinVar Miner

List of variants studied 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: 50
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HGVS dbSNP
NM_001363846.1(GFAP):c.-34C>T rs528716689
NM_002055.5(GFAP):c.*1001G>A rs1042329
NM_002055.5(GFAP):c.*1014G>A rs113627279
NM_002055.5(GFAP):c.*1074C>T rs117405516
NM_002055.5(GFAP):c.*1276C>T rs146927331
NM_002055.5(GFAP):c.*1285C>T rs111477608
NM_002055.5(GFAP):c.*1356C>T rs572353668
NM_002055.5(GFAP):c.*1522T>C rs17027
NM_002055.5(GFAP):c.*1550C>A rs571674072
NM_002055.5(GFAP):c.*1620C>T rs7049
NM_002055.5(GFAP):c.*1629C>T rs567636153
NM_002055.5(GFAP):c.*1695T>C rs149747152
NM_002055.5(GFAP):c.*16G>A rs113487550
NM_002055.5(GFAP):c.*27C>T rs544481265
NM_002055.5(GFAP):c.*28C>G rs11558961
NM_002055.5(GFAP):c.*30G>A rs201709616
NM_002055.5(GFAP):c.*338C>T rs8067254
NM_002055.5(GFAP):c.*46G>A rs770321525
NM_002055.5(GFAP):c.*630G>A rs72828813
NM_002055.5(GFAP):c.*742C>T rs149058649
NM_002055.5(GFAP):c.*814T>A rs3744470
NM_002055.5(GFAP):c.1171+5G>A rs759032212
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.141G>A (p.Pro47=) rs2229011
NM_002055.5(GFAP):c.179C>A (p.Ala60Asp) rs886053020
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497
NM_002055.5(GFAP):c.342C>A (p.Asp114Glu) rs115282391
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.42C>T (p.Tyr14=) rs140252141
NM_002055.5(GFAP):c.43G>A (p.Val15Ile) rs146698039
NM_002055.5(GFAP):c.462-11C>T rs184208563
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.462G>A (p.Lys154=) rs886053018
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670
NM_002055.5(GFAP):c.547C>T (p.Arg183Cys) rs201656479
NM_002055.5(GFAP):c.619-12C>T rs3744468
NM_002055.5(GFAP):c.619-9C>G rs3744469
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676
NM_002055.5(GFAP):c.858G>A (p.Arg286=) rs2289681
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) rs1126642
NM_002055.5(GFAP):c.947G>A (p.Arg316Gln) rs140004406
NM_002055.5(GFAP):c.957G>A (p.Arg319=) rs61733890
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579

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