ClinVar Miner

List of variants in gene PEX10 reported as benign for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_002617.4(PEX10):c.776+33G>T rs3795269 0.38841
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_002617.4(PEX10):c.495C>T (p.Phe165=) rs150344828 0.00145
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_002617.4(PEX10):c.777-12del
NM_002617.4(PEX10):c.913-17del

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