ClinVar Miner

List of variants in gene PPM1K reported as benign for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_152542.5(PPM1K):c.978G>A (p.Val326=) rs34981823 0.02463
NM_152542.5(PPM1K):c.961G>A (p.Glu321Lys) rs35523553 0.00958
NM_152542.5(PPM1K):c.339C>T (p.Phe113=) rs116564150 0.00759
NM_152542.5(PPM1K):c.708-169G>A rs62309980 0.00605
NM_152542.5(PPM1K):c.708-116C>T rs149713212 0.00322
NM_152542.5(PPM1K):c.481A>G (p.Thr161Ala) rs113436519 0.00315
NM_152542.5(PPM1K):c.294C>T (p.Ala98=) rs117297894 0.00017
NM_152542.5(PPM1K):c.707+7C>T rs369204921 0.00009
NM_152542.5(PPM1K):c.441-7del rs767683502

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