List of variants in gene combination AGPS, LOC129935172 reported as uncertain significance for peroxisomal disease

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	rs759572190	0.00069
NM_003659.4(AGPS):c.54C>T (p.Ser18=)	rs774742400	0.00057
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	rs778087162	0.00034
NM_003659.4(AGPS):c.-14A>G	rs752946440	0.00001
NM_003659.4(AGPS):c.108G>A (p.Arg36=)	rs886055163	0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val)	rs1233318758	0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=)	rs990214554	0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val)	rs1454806934	0.00001
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys)	rs1217837187	0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=)	rs1346009699	0.00001
NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	rs764286061	0.00001
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_003659.4(AGPS):c.197C>T (p.Ala66Val)	rs774854340
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3])	rs886055162

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