ClinVar Miner

List of variants reported as likely benign for Mobius syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000479.5(AMH):c.350G>A (p.Arg117Gln) rs185020288
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_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_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

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