ClinVar Miner

List of variants in gene CYP27A1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330

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