ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005630.3(SLCO2A1):c.1237_1246del (p.Val413fs)	rs765698717
NM_005630.3(SLCO2A1):c.529C>T (p.Gln177Ter)	rs2108045848
NM_005630.3(SLCO2A1):c.614C>T (p.Pro205Leu)	rs2108045784

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