ClinVar Miner

List of variants reported as uncertain significance for cranial nerve neuropathy by CHU Sainte-Justine Research Center, University of Montreal

Included ClinVar conditions (194):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737 0.00484
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884 0.00009
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788
NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[1]) rs759806020
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382

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