ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003673.4(TCAP):c.447C>T (p.Pro149=) rs45614332 0.00004
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862

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