ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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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.60C>G (p.Ala20=) rs146502276 0.00034
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.34GAG[1] (p.Glu13del) rs397516862

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