ClinVar Miner

List of variants in gene combination LOC129992304, QDPR reported as benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.-47C>G rs2244788 0.40252
NM_000320.3(QDPR):c.-81del rs67496406 0.22322
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682

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