ClinVar Miner

List of variants in gene MPZ reported as benign for Roussy-Levy syndrome

Included ClinVar conditions (4):
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_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.-49C>A rs750777955

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