ClinVar Miner

List of variants in gene GFAP studied for Inborn genetic diseases

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002055.5(GFAP):c.130C>G (p.Pro44Ala) rs144543354 0.00040
NM_002055.5(GFAP):c.676G>A (p.Val226Met) rs149883728 0.00020
NM_002055.5(GFAP):c.43G>A (p.Val15Ile) rs146698039 0.00014
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00009
NM_002055.5(GFAP):c.77C>T (p.Ala26Val) rs139837765 0.00007
NM_002055.5(GFAP):c.1005del (p.Gln336fs) rs2051758860
NM_002055.5(GFAP):c.1135A>G (p.Ile379Val)
NM_002055.5(GFAP):c.1171G>A (p.Glu391Lys)
NM_002055.5(GFAP):c.1220A>C (p.Asn407Thr) rs1555573462
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.13C>T (p.Arg5Cys)
NM_002055.5(GFAP):c.235del (p.Arg79fs) rs869312938
NM_002055.5(GFAP):c.287C>T (p.Ala96Val)
NM_002055.5(GFAP):c.31C>G (p.Arg11Gly)
NM_002055.5(GFAP):c.325C>A (p.Pro109Thr)
NM_002055.5(GFAP):c.34C>T (p.Arg12Cys)
NM_002055.5(GFAP):c.388C>G (p.Leu130Val)
NM_002055.5(GFAP):c.406C>T (p.Arg136Trp)
NM_002055.5(GFAP):c.575C>T (p.Ser192Leu)
NM_002055.5(GFAP):c.599T>C (p.Leu200Ser)
NM_002055.5(GFAP):c.643C>G (p.Leu215Val)
NM_002055.5(GFAP):c.737C>T (p.Ala246Val) rs374224631

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