ClinVar Miner

List of variants studied for Mobius syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000479.5(AMH):c.350G>A (p.Arg117Gln) rs185020288
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737
NM_001005463.3(EBF3):c.577A>G (p.Lys193Glu) rs886040976
NM_001080424.2(KDM6B):c.753_755ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884
NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del) rs774571391
NM_001348768.2(HECW2):c.2264_2266AAG[2] (p.Glu757del) rs757981529
NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn) rs552109642
NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu) rs200234049
NM_001797.4(CDH11):c.95G>A (p.Arg32Gln) rs757142171
NM_003458.4(BSN):c.7374_7385GCAGCAGCAGCT[1] (p.2459_2462QQQL[1]) rs759806020
NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe) rs775127172
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568
NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg) rs769251460
NM_004573.3(PLCB2):c.2585C>A (p.Thr862Lys) rs779256250
NM_005068.2(SIM1):c.1994G>A (p.Arg665His) rs146866401
NM_005068.2(SIM1):c.2119G>C (p.Asp707His) rs74726213
NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro) rs149440376
NM_006428.5(MRPL28):c.610G>A (p.Val204Met) rs181590179
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382
NM_014424.4(HSPB7):c.442A>G (p.Thr148Ala) rs530970423
NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr) rs748092018
NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg) rs754048481
NM_153606.4(FAM71A):c.1465T>C (p.Ser489Pro) rs767737768
NM_153606.4(FAM71A):c.1475G>A (p.Gly492Asp) rs886037883
NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly) rs143608766
NM_182540.6(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.