List of variants in gene TPP1 reported as benign for Neuronal ceroid lipofuscinosis 2

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C	rs7943955	0.98952
NM_000391.4(TPP1):c.*1628G>A	rs7488	0.76311
NM_000391.4(TPP1):c.508+26T>A	rs1800738	0.47846
NM_000391.4(TPP1):c.*1588C>T	rs7487	0.45466
NM_000391.4(TPP1):c.*1118G>C	rs1045450	0.27054
NM_000391.4(TPP1):c.1542A>T (p.Gly514=)	rs1128396	0.19324
NM_000391.4(TPP1):c.1075+42C>T	rs2072651	0.18914
NM_000391.4(TPP1):c.1426-78T>C	rs1800723	0.15736
NM_000391.4(TPP1):c.687+32T>C	rs1800710	0.08743
NM_000391.4(TPP1):c.441A>G (p.Glu147=)	rs2555170	0.04313
NM_000391.4(TPP1):c.381-10dup	rs146315473	0.02566
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.1044C>T (p.Ala348=)	rs35706972	0.00959
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	rs117942457	0.00902
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	rs1800746	0.00831
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)	rs112812685	0.00750
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)	rs2734715	0.00518
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	rs138744051	0.00431
NM_000391.4(TPP1):c.381-23G>T	rs181191327	0.00312
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys)	rs34758634	0.00308
NM_000391.4(TPP1):c.*241T>C	rs74843914	0.00029
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	rs141482368	0.00007
NM_000391.4(TPP1):c.887-6del	rs35039601
NM_000391.4(TPP1):c.887-7_887-6del	rs35039601
NM_000391.4(TPP1):c.887-8_887-6del	rs35039601

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