List of variants in gene CYP27A1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)	rs575064188	0.00003
NM_000784.4(CYP27A1):c.1185-1G>A	rs587778779	0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)	rs72551314	0.00001
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)	rs886041342
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)	rs771819245
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.256-1G>T	rs886556800
NM_000784.4(CYP27A1):c.256-2A>G	rs1559391390
NM_000784.4(CYP27A1):c.446+1G>T	rs587778797
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)	rs755532803
NM_000784.4(CYP27A1):c.776del (p.Lys259fs)	rs1343936087
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356

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