ClinVar Miner

List of variants in gene MME studied for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00459
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1706A>C (p.Gln569Pro) rs1326179984 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_007289.4(MME):c.1095-2A>C rs2108312675
NM_007289.4(MME):c.1946T>G (p.Ile649Ser) rs184666602
NM_007289.4(MME):c.2154G>T (p.Arg718Ser) rs1284714866
NM_007289.4(MME):c.428G>A (p.Cys143Tyr) rs879255651
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007289.4(MME):c.594dup (p.Val199fs) rs1254522989

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