ClinVar Miner

List of variants reported as likely pathogenic by Department of Pediatrics, Inha University Hospital, Inha University College of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu)	rs768207318	0.00001
NM_000127.3(EXT1):c.444del (p.Ser149fs)	rs1182900059
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs)	rs2128372930

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