ClinVar Miner

List of variants studied for Ayme-Gripp syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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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.611G>T (p.Gly204Val) rs867401075 0.01073
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00501
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_005360.5(MAF):c.649G>A (p.Gly217Ser) rs977933498 0.00065
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00062
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_005360.5(MAF):c.594C>T (p.Gly198=) rs866444177 0.00046
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005360.5(MAF):c.468G>C (p.Glu156Asp) rs1183759983 0.00011
NM_005360.5(MAF):c.285C>A (p.Thr95=) rs369752568 0.00010
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_005360.5(MAF):c.828G>A (p.Arg276=) rs539852214 0.00003
NM_005360.5(MAF):c.743C>A (p.Pro248Gln) rs764041224 0.00002
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp) rs775799498 0.00001
NM_005360.5(MAF):c.138C>T (p.Cys46=) rs748965258 0.00001
NM_005360.5(MAF):c.260A>C (p.His87Pro) rs1031812704 0.00001
NM_005360.5(MAF):c.264G>A (p.Leu88=) rs746181829 0.00001
NM_005360.5(MAF):c.864G>A (p.Arg288=) rs749330861 0.00001
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184 0.00001
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_005360.5(MAF):c.1119-12T>C rs2507622046
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.185C>T (p.Thr62Met) 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.224C>T (p.Ala75Val) rs1913879694
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.308C>A (p.Pro103His) rs200484908
NM_005360.5(MAF):c.435_440del (p.143GA[2]) rs753758729
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.487G>C (p.Val163Leu) rs1913845255
NM_005360.5(MAF):c.490_501del (p.Val164_Val167del) rs2507662433
NM_005360.5(MAF):c.528C>G (p.Gly176=) rs2143809805
NM_005360.5(MAF):c.544CAC[9] (p.His187_Ala188insHisHisHis) rs1029898670
NM_005360.5(MAF):c.576C>T (p.His192=)
NM_005360.5(MAF):c.588G>A (p.Thr196=)
NM_005360.5(MAF):c.592G>A (p.Gly198Ser) rs1913830403
NM_005360.5(MAF):c.60A>T (p.Glu20Asp) rs1913894901
NM_005360.5(MAF):c.641G>C (p.Gly214Ala) rs957401703
NM_005360.5(MAF):c.644G>A (p.Gly215Asp) rs1316735017
NM_005360.5(MAF):c.647C>G (p.Ala216Gly)
NM_005360.5(MAF):c.655G>A (p.Gly219Ser) rs1030258012
NM_005360.5(MAF):c.675_683dup (p.Gly238_Ala239insGlyGlyGly)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[11] (p.Gly238_Ala239insGlyGlyGly) rs887468453
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[5] (p.Gly236_Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[6] (p.Gly237_Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) 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) rs1555529870
NM_005360.5(MAF):c.705CGG[4] (p.Gly238_Ala239insGlyGly) rs1555529870
NM_005360.5(MAF):c.712G>T (p.Gly238Cys) rs1764753196
NM_005360.5(MAF):c.726G>T (p.Ala242=) rs1348434035
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.797T>G (p.Leu266Arg) rs2143802492
NM_005360.5(MAF):c.810T>G (p.Ser270=) rs2143802343
NM_005360.5(MAF):c.823_834del (p.Asn275_Leu278del) rs2507655765
NM_005360.5(MAF):c.860T>G (p.Ile287Ser) rs772989511
NM_005360.5(MAF):c.861C>T (p.Ile287=) rs139380519
NM_005360.5(MAF):c.866T>A (p.Leu289Gln) rs777544349
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.892A>C (p.Asn298His) rs2507655006
NM_005360.5(MAF):c.894C>A (p.Asn298Lys) rs2507654983
NM_005360.5(MAF):c.895C>T (p.Arg299Cys) rs786205221
NM_005360.5(MAF):c.902A>G (p.Tyr301Cys) rs2507654850
NM_005360.5(MAF):c.905C>A (p.Ala302Asp) rs1481963503
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr) rs1913782042
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005360.5(MAF):c.922A>G (p.Lys308Glu) rs2507654561
NM_005360.5(MAF):c.935A>G (p.Gln312Arg) rs2507654398
NM_005360.5(MAF):c.939A>G (p.Arg313=) rs1231719173
NM_005360.5(MAF):c.984C>G (p.Asp328Glu) rs2507653847

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