ClinVar Miner

Variants in gene GFAP with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00908
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162 0.00244
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487 0.00130
NM_002055.5(GFAP):c.1246C>A (p.Arg416=) rs121909717 0.00012
NM_002055.5(GFAP):c.159C>T (p.Ser53=) rs201451094 0.00004
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.342C>A (p.Asp114Glu) rs115282391
NM_002055.5(GFAP):c.462-8dup rs572562362

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