ClinVar Miner

List of variants in gene GFAP reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002055.5(GFAP):c.1171+473C>A rs775524073
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile) rs1597853099
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) rs797044570
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.215A>G (p.Glu72Gly) rs1057518685
NM_002055.5(GFAP):c.227T>C (p.Leu76Pro)
NM_002055.5(GFAP):c.252C>G (p.Ile84Met) rs571151302
NM_002055.5(GFAP):c.368T>C (p.Leu123Pro)
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.706A>G (p.Lys236Glu) rs2145637388

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