List of variants in gene DHCR7 reported as likely pathogenic for not provided

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	rs143999854	0.00093
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	rs542266962	0.00010
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	rs777425801	0.00009
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	rs80338862	0.00007
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)	rs370307688	0.00006
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)	rs547012639	0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00004
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	rs121909767	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)	rs775773057	0.00002
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	rs80338860	0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)	rs371302153	0.00001
NM_001360.3(DHCR7):c.1090A>G (p.Thr364Ala)	rs1085307925	0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)	rs373306653	0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	rs1046560765	0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)	rs781687341	0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)	rs1478872904	0.00001
NM_001360.3(DHCR7):c.429T>G (p.Tyr143Ter)	rs1393186135	0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	rs753960624	0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	rs779896782	0.00001
NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser)	rs774275482	0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	rs398123607	0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	rs121909765	0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu)	rs1085307926	0.00001
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His)	rs1949268223
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	rs781687341
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)	rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	rs886042362
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	rs201270451
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)	rs104886041
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)	rs949177
NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu)
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr)	rs745498103
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)	rs367585401
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)	rs1173707321
NM_001360.3(DHCR7):c.998C>T (p.Ser333Phe)

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