ClinVar Miner

List of variants in gene TCAP reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.*395C>T rs45540732 0.00792
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.187C>T (p.Arg63Cys) rs758048577 0.00017
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.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys) rs572836774 0.00006
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003673.4(TCAP):c.261G>T (p.Arg87=) rs375389509 0.00003
NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del) rs748506107
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg) rs1355624192
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003673.4(TCAP):c.410C>A (p.Thr137Lys)
NM_003673.4(TCAP):c.410_411del (p.Thr137fs)

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