ClinVar Miner

List of variants in gene DHCR7 reported as pathogenic

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Total variants: 46
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HGVS dbSNP
DHCR7, 1-BP INS, 505C
DHCR7, 1-BP INS, 586T
DHCR7, 96-BP DEL
DHCR7, PHE284LEU
DHCR7, TRP37TER
GRCh37/hg19 11q13.4(chr11:71154800-71157788)x1
NM_001163817.1(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.1(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) rs104886035
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.322_412del rs786200926
NM_001360.2(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.2(DHCR7):c.385_412+5del33 rs746482788
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter)
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.902A>G (p.His301Arg)
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859

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