ClinVar Miner

List of variants reported as uncertain significance for Mobius syndrome by CHU Sainte-Justine Research Center,University of Montreal

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737
NM_001080424.2(KDM6B):c.753_755ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884
NM_003458.4(BSN):c.7374_7385GCAGCAGCAGCT[1] (p.2459_2462QQQL[1]) rs759806020
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382
NM_182540.6(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788

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