List of variants in gene MAF reported as pathogenic for Ayme-Gripp syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.(?_79594440)_(79599922_?)del
NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	rs727502766
NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	rs727502767
NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	rs727502769
NM_005360.5(MAF):c.176C>A (p.Pro59His)	rs727502770
NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	rs727502770
NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	rs727502771
NM_005360.5(MAF):c.197C>T (p.Ser66Leu)
NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	rs727502768
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)	rs1555530022
NM_005360.5(MAF):c.881G>A (p.Arg294Gln)	rs1597847611
NM_005360.5(MAF):c.895C>T (p.Arg299Cys)	rs786205221

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