List of variants in gene CYP27A1 reported as likely benign for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)	rs61733619	0.01643
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01478
NM_000784.4(CYP27A1):c.446+223A>G	rs115054657	0.01386
NM_000784.4(CYP27A1):c.255+87G>A	rs78706879	0.01150
NC_000002.12:g.218781406T>C	rs147477169	0.00811
NM_000784.4(CYP27A1):c.1018-251C>T	rs114013731	0.00808
NM_000784.4(CYP27A1):c.1018-186C>T	rs114660195	0.00788
NM_000784.4(CYP27A1):c.1476+72G>A	rs116288589	0.00764
NM_000784.4(CYP27A1):c.447-141T>G	rs11891257	0.00716
NM_000784.4(CYP27A1):c.256-142C>T	rs187493096	0.00575
NM_000784.4(CYP27A1):c.255+193A>C	rs78672392	0.00568
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)	rs147975335	0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)	rs2229381	0.00498
NC_000002.12:g.218781575A>G	rs145194389	0.00496
NC_000002.12:g.218781609G>T	rs150590414	0.00466
NM_000784.4(CYP27A1):c.1017+37G>C	rs139862044	0.00459
NM_000784.4(CYP27A1):c.256-137_256-126del	rs1440895357	0.00423
NC_000002.12:g.218781453C>T	rs139710471	0.00360
NM_000784.3(CYP27A1):c.-205C>A	rs187723732	0.00357
NM_000784.4(CYP27A1):c.256-125_256-124insAC	rs1228333852	0.00350
NM_000784.4(CYP27A1):c.446+199G>T	rs146574215	0.00290
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)	rs75897848	0.00225
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)	rs140842830	0.00215
NM_000784.4(CYP27A1):c.646+4C>T	rs191313794	0.00105
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)	rs151064520	0.00093
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)	rs141519183	0.00053
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)	rs138596741	0.00037
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)	rs143600636	0.00019
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)	rs150389057	0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)	rs142623022	0.00016
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)	rs371636461	0.00007
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=)	rs375163463	0.00005
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)	rs1487944910	0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)	rs200060245	0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)	rs202136743	0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)	rs190012697	0.00003
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)	rs771343931	0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)	rs764766872	0.00002
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)	rs1943729887	0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=)	rs1444634924	0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)	rs769640126	0.00001
NC_000002.12:g.218781747T>C	rs114345604
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=)	rs773208703
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)	rs72551323
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)	rs76822427
NM_000784.4(CYP27A1):c.256-138_256-137insTA	rs1559391300
NM_000784.4(CYP27A1):c.447-192C>T	rs77127330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)	rs59443548

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