List of variants in gene DHCR7 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 7

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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.1341C>T (p.Asp447=)	rs139721775	0.00296
NM_001360.3(DHCR7):c.321+10C>T	rs377108406	0.00189
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	0.00031
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	rs121909767	0.00003
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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