ClinVar Miner

Variants in gene TPP1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650

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