ClinVar Miner

List of variants reported as likely pathogenic by Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles

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Total variants: 13
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HGVS dbSNP
NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu)
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083
NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter)
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718
NM_001194998.2(CEP152):c.3249del (p.Val1084fs) rs754267846
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys)
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) rs1594462950

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