ClinVar Miner

List of variants reported as likely pathogenic by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 12
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HGVS dbSNP
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) rs201850378
NM_032305.3(POLR3GL):c.-41-1G>A rs782661984
NM_032305.3(POLR3GL):c.326-1G>A rs1553763618
NM_145207.3(SPATA5):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243

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