ClinVar Miner

List of variants in gene PPT1 reported as benign by Invitae

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly) rs749909390 0.00024
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.627+16G>A rs745468692 0.00004
NM_000310.4(PPT1):c.537-16dup rs760997725
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000310.4(PPT1):c.627+4A>G rs572153728

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