ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00540
NM_005360.5(MAF):c.649G>A (p.Gly217Ser) rs977933498 0.00068
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005360.5(MAF):c.285C>A (p.Thr95=) rs369752568 0.00010
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184 0.00001
NM_005360.5(MAF):c.1119-12T>C
NM_005360.5(MAF):c.138C>T (p.Cys46=)
NM_005360.5(MAF):c.264G>A (p.Leu88=)
NM_005360.5(MAF):c.308C>A (p.Pro103His)
NM_005360.5(MAF):c.435_440del (p.143GA[2]) rs753758729
NM_005360.5(MAF):c.528C>G (p.Gly176=) rs2143809805
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del)
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del)
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.696C>T (p.Gly232=) rs868331592
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly)
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly)
NM_005360.5(MAF):c.726G>T (p.Ala242=)
NM_005360.5(MAF):c.810T>G (p.Ser270=) rs2143802343
NM_005360.5(MAF):c.828G>A (p.Arg276=)
NM_005360.5(MAF):c.861C>T (p.Ile287=)
NM_005360.5(MAF):c.939A>G (p.Arg313=) rs1231719173

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