List of variants in gene DHCR7 reported as likely pathogenic by Baylor Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	rs200334114	0.00006
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)	rs104886040	0.00002
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	rs770819693	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	rs121912195	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)	rs1591107421
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)	rs140791666
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	rs781687341
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs)	rs1591107062
NM_001360.3(DHCR7):c.322-1G>A	rs1565588719
NM_001360.3(DHCR7):c.626+2dup	rs1591111319
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	rs1555146021
NM_001360.3(DHCR7):c.995del (p.Leu332fs)	rs1057516618
NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)

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