ClinVar Miner

List of variants reported as likely pathogenic by Centre for Translational Omics - GOSgene,University College London

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Total variants: 8
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HGVS dbSNP
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_001080522.2(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_006231.3(POLE):c.5867A>T (p.Glu1956Val) rs780843358
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys) rs774753616
NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr) rs28941778

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