ClinVar Miner

List of variants in gene GFAP reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.265T>C (p.Phe89Leu) rs773482099 0.00009
NM_002055.5(GFAP):c.86G>A (p.Arg29His) rs201998644 0.00005
NM_002055.5(GFAP):c.31C>T (p.Arg11Cys) rs749815672 0.00004
NM_002055.5(GFAP):c.626G>A (p.Arg209Gln) rs771699440 0.00002
NM_002055.5(GFAP):c.546C>T (p.Ala182=) rs1190065571 0.00001
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.363_371dup (p.Arg124_Leu125insGluLeuArg)
NM_002055.5(GFAP):c.668A>T (p.Glu223Val) rs1597861228
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.5(GFAP):c.847_849del (p.Asn283del) rs2145634198
NM_002055.5(GFAP):c.906+9G>C rs372000966

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