List of variants in gene DHCR7 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)	rs949177	0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=)	rs1790334	0.90380
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)	rs760241	0.85831
NM_001360.3(DHCR7):c.189G>A (p.Gln63=)	rs1044482	0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)	rs909217	0.56172
NM_001360.3(DHCR7):c.626+15G>A	rs736894	0.30458
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	rs80338862	0.00007
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)	rs61757582	0.00006
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile)	rs779222334	0.00004
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	rs80338860	0.00001
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)	rs121909768
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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