ClinVar Miner

List of variants in gene SMPX studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_014332.3(SMPX):c.*181A>G
NM_014332.3(SMPX):c.*232T>G
NM_014332.3(SMPX):c.*395T>G rs765339045
NM_014332.3(SMPX):c.*45A>T rs1057515838
NM_014332.3(SMPX):c.-103C>T
NM_014332.3(SMPX):c.-54G>A rs1057515840
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs) rs398122848
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) rs387906708
NM_014332.3(SMPX):c.264G>A (p.Gln88=) rs1057515839
NM_014332.3(SMPX):c.87dup (p.Gly30fs) rs1569308571
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930

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