Variants in gene CYP27A1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 10

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	rs41272687	0.01478
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	rs72551312	0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	rs587778796	0.00001
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930

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