ClinVar Miner

List of variants in gene PMPCA studied for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015160.3(PMPCA):c.1200+33G>A rs4604565 0.21146
NM_015160.3(PMPCA):c.90C>T (p.Tyr30=) rs10870144 0.13348
NM_015160.3(PMPCA):c.258G>C (p.Gln86His) rs141305380 0.00006
NM_015160.3(PMPCA):c.1408+1G>A rs753895120 0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) rs869025293 0.00001
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) rs192764146 0.00001
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe) rs2131591617
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) rs769031961
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) rs869025292
NM_015160.3(PMPCA):c.897+6G>A rs150776126

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