ClinVar Miner

List of variants reported as likely pathogenic by Santos-Cortez Lab,University of Colorado School of Medicine

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Total variants: 8
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NM_000091.4(COL4A3):c.764C>T (p.Thr255Met) rs573527081
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
NM_144672.4(OTOA):c.2301+1G>T rs1567396832

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