ClinVar Miner

List of variants in gene PAFAH1B1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn) rs767670214
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) rs374766360
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn) rs1555526698
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063

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