ClinVar Miner

List of variants in gene PPT1 reported as likely benign for not specified

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Total variants: 22
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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.363-4G>A rs117284255 0.00318
NM_000310.4(PPT1):c.513G>A (p.Ala171=) rs150924738 0.00010
NM_000310.4(PPT1):c.198C>T (p.Tyr66=) rs200035288 0.00004
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu) rs386833641 0.00003
NM_000310.4(PPT1):c.141T>C (p.Asn47=) rs756148014 0.00002
NM_000310.4(PPT1):c.726+9C>T rs1024088820 0.00002
NM_000310.4(PPT1):c.125-5G>A rs777893002 0.00001
NM_000310.4(PPT1):c.234+18T>C rs372965402 0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=) rs375820734 0.00001
NM_000310.4(PPT1):c.43C>T (p.Leu15=) rs1057522283 0.00001
NM_000310.4(PPT1):c.627+15C>T rs566932238 0.00001
NM_000310.4(PPT1):c.362+11T>A rs1553167465
NM_000310.4(PPT1):c.362+18A>T rs201717598
NM_000310.4(PPT1):c.390A>G (p.Ser130=) rs1057522741
NM_000310.4(PPT1):c.433+5C>G rs1553167414
NM_000310.4(PPT1):c.433+7_433+8del rs750997143
NM_000310.4(PPT1):c.474C>T (p.His158=) rs549251715
NM_000310.4(PPT1):c.536+10G>A rs1293510783
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000310.4(PPT1):c.798+16T>G rs1553166332

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