ClinVar Miner

List of variants in gene TECPR2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000014.8:g.(?_102873665)_(102964066_?)dup
NC_000014.8:g.(?_102915956)_(102918974_?)dup
NC_000014.9:g.(?_102407328)_(102450659_?)dup
NC_000014.9:g.(?_102465131)_(102465314_?)dup
NM_014844.5(TECPR2):c.1005_1084+133del
NM_014844.5(TECPR2):c.1418-2A>G
NM_014844.5(TECPR2):c.218_219+15del rs1567314662
NM_014844.5(TECPR2):c.220-2A>G
NM_014844.5(TECPR2):c.2578+1G>A
NM_014844.5(TECPR2):c.2578+2T>C rs2139736635
NM_014844.5(TECPR2):c.2753-1G>A rs1276623521
NM_014844.5(TECPR2):c.3075+1G>A
NM_014844.5(TECPR2):c.3075+2T>C
NM_014844.5(TECPR2):c.951+1G>C

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