ClinVar Miner

List of variants in gene OCRL reported as benign by Ambry Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625 0.00301
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn) rs137884245 0.00169
NM_000276.4(OCRL):c.1602+11G>A rs189554643 0.00075
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897 0.00013
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942 0.00004

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