ClinVar Miner

List of variants in gene CYP27A1 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 59
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HGVS dbSNP
NM_000784.3(CYP27A1):c.-162C>T rs886055629
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-205C>A rs187723732
NM_000784.3(CYP27A1):c.-335C>T rs528284503
NM_000784.3(CYP27A1):c.-357dupC rs397795841
NM_000784.3(CYP27A1):c.-370T>C rs182545847
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*195G>C rs886055632
NM_000784.4(CYP27A1):c.*209G>A
NM_000784.4(CYP27A1):c.*47G>A rs140059093
NM_000784.4(CYP27A1):c.-6C>T rs199891090
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.447-3C>T
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335

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