ClinVar Miner

List of variants in gene TPP1 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_000391.4(TPP1):c.*1588C>T rs7487 0.44955
NM_000391.4(TPP1):c.*1118G>C rs1045450 0.27054
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000391.4(TPP1):c.*71G>A rs140680586 0.01221
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_000391.4(TPP1):c.887-7_887-6del rs35039601

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