ClinVar Miner

List of variants studied for Mobius syndrome by CHU Sainte-Justine Research Center, University of Montreal

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737 0.00484
NM_005068.3(SIM1):c.1994G>A (p.Arg665His) rs146866401 0.00255
NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly) rs143608766 0.00236
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro) rs149440376 0.00044
NM_006428.5(MRPL28):c.610G>A (p.Val204Met) rs181590179 0.00031
NM_014424.5(HSPB7):c.442A>G (p.Thr148Ala) rs530970423 0.00029
NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr) rs748092018 0.00013
NM_000479.5(AMH):c.350G>A (p.Arg117Gln) rs185020288 0.00012
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884 0.00009
NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn) rs552109642 0.00003
NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu) rs200234049 0.00002
NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del) rs774571391 0.00001
NM_001797.4(CDH11):c.95G>A (p.Arg32Gln) rs757142171 0.00001
NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg) rs769251460 0.00001
NM_153606.4(GARIN4):c.1465T>C (p.Ser489Pro) rs767737768 0.00001
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001348768.2(HECW2):c.2264AAG[2] (p.Glu757del) rs757981529
NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788
NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[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.2585C>A (p.Thr862Lys) rs779256250
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382
NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg) rs754048481
NM_153606.4(GARIN4):c.1475G>A (p.Gly492Asp) rs886037883

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