ClinVar Miner

List of variants reported as likely pathogenic for Connective tissue disorder by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_000093.5(COL5A1):c.841del (p.Glu281fs) rs1554787779
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) rs1555167139
NM_001854.4(COL11A1):c.4140+3A>T rs1553196515

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