ClinVar Miner

Variants in gene TMPRSS3 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) rs149919890 0.00098
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=) rs774844255 0.00006
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=) rs192630206 0.00002
NM_001256317.3(TMPRSS3):c.446+4A>T rs376253981 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001256317.3(TMPRSS3):c.783-13C>A rs140443203 0.00001
NM_001256317.3(TMPRSS3):c.1192-8T>C rs751114709
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427

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