ClinVar Miner

List of variants in gene DHCR7 reported as likely pathogenic by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
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.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.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.1090A>G (p.Thr364Ala) rs1085307925 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.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926 0.00001
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.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu)
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.998C>T (p.Ser333Phe)

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