List of variants in gene PPM1K reported as benign for Maple syrup urine disease, mild variant

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.441-14del
NM_152542.5(PPM1K):c.441-7del	rs767683502

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