ClinVar Miner

List of variants in gene TCAP reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_003673.4(TCAP):c.453= (p.Ala151=) rs1053651 0.38956
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_003673.4(TCAP):c.191C>T (p.Ser64Leu) rs45458802 0.00421
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
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.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu) rs727504427 0.00003
NM_003673.4(TCAP):c.16C>A (p.Leu6Met) rs201664428 0.00002
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr) rs727503455 0.00002
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.473G>A (p.Arg158His) rs397516864 0.00001
NM_003673.4(TCAP):c.111-15dup rs397516860
NM_003673.4(TCAP):c.346C>T (p.Leu116=) rs876657586
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser) rs374886575
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu) rs397516865

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