ClinVar Miner

List of variants in gene TCIRG1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.631-2A>C rs1214876593 0.00001
NM_006019.4(TCIRG1):c.1020+2T>A
NM_006019.4(TCIRG1):c.1166-2A>G rs113982129
NM_006019.4(TCIRG1):c.117+5G>A rs2134430922
NM_006019.4(TCIRG1):c.118-1G>A
NM_006019.4(TCIRG1):c.118-2A>T
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1463+1G>T rs2134455719
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.162_196+139del
NM_006019.4(TCIRG1):c.1887+146G>A
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.2013+1G>A
NM_006019.4(TCIRG1):c.2014-2A>G
NM_006019.4(TCIRG1):c.2119-2A>C
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2414+1G>A
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-9_503+11dup rs1590803008
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.503+2T>A
NM_006019.4(TCIRG1):c.631-1G>A
NM_006019.4(TCIRG1):c.631-1G>T rs1855290865
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.807+2T>C rs2134440422

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