List of variants in gene CYP27B1 reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	rs118204009	0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs)	rs387906260	0.00004
NM_000785.4(CYP27B1):c.589+1G>A	rs761780097	0.00001
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro)	rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe)	rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser)	rs28934607
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly)	rs118204010
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs)	rs2140397731
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	rs28934604
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)	rs28934605
NM_000785.4(CYP27B1):c.386+1G>A	rs770204470
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)	rs118204012
NM_000785.4(CYP27B1):c.631del (p.Glu211fs)	rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs)	rs387906259
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg)	rs118204007

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