ClinVar Miner

List of variants in gene DHCR24 reported as uncertain significance for Desmosterolosis

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_014762.4(DHCR24):c.*1489G>A rs192013345 0.00558
NM_014762.4(DHCR24):c.*1424C>T rs113651566 0.00331
NM_014762.4(DHCR24):c.*914G>A rs140759061 0.00185
NM_014762.4(DHCR24):c.*2038G>A rs116411531 0.00162
NM_014762.4(DHCR24):c.*2080C>T rs377656375 0.00148
NM_014762.4(DHCR24):c.*1815A>T rs570922003 0.00147
NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys) rs150688144 0.00092
NM_014762.4(DHCR24):c.*577C>T rs57714270 0.00065
NM_014762.4(DHCR24):c.*316T>G rs74072037 0.00063
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00061
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_014762.4(DHCR24):c.-11G>A rs368314999 0.00041
NM_014762.4(DHCR24):c.*2394A>C rs548629632 0.00027
NM_014762.4(DHCR24):c.615C>T (p.Ser205=) rs147213053 0.00026
NM_014762.3(DHCR24):c.-77C>T rs548661780 0.00013
NM_014762.4(DHCR24):c.-42A>G rs371075692 0.00013
NM_014762.4(DHCR24):c.1329G>A (p.Pro443=) rs142984207 0.00013
NM_014762.4(DHCR24):c.*1881G>A rs757634950 0.00010
NM_014762.4(DHCR24):c.*27dup rs757256992 0.00010
NM_014762.4(DHCR24):c.*1264T>C rs553462271 0.00009
NM_014762.4(DHCR24):c.*1389T>C rs140078801 0.00009
NM_014762.4(DHCR24):c.*2119C>T rs886046414 0.00006
NM_014762.4(DHCR24):c.*1073C>G rs1044074687 0.00005
NM_014762.4(DHCR24):c.*1267G>A rs1175475634 0.00004
NM_014762.4(DHCR24):c.*278G>A rs772933580 0.00004
NM_014762.4(DHCR24):c.*676C>G rs762917924 0.00004
NM_014762.4(DHCR24):c.*984G>A rs776318516 0.00003
NM_014762.4(DHCR24):c.*172A>G rs886046420 0.00002
NM_014762.4(DHCR24):c.718C>T (p.Leu240=) rs191246223 0.00002
NM_014762.4(DHCR24):c.*125A>G rs914940982 0.00001
NM_014762.4(DHCR24):c.*1876T>C rs972764548 0.00001
NM_014762.4(DHCR24):c.*2468T>C rs1308283692 0.00001
NM_014762.4(DHCR24):c.*2503C>T rs886046412 0.00001
NM_014762.4(DHCR24):c.*2514A>G rs532882730 0.00001
NM_014762.4(DHCR24):c.1331G>A (p.Arg444His) rs747327620 0.00001
NM_014762.4(DHCR24):c.1431C>T (p.Asn477=) rs1453549055 0.00001
NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp) rs776954529 0.00001
NM_014762.4(DHCR24):c.712G>A (p.Val238Ile) rs886046421 0.00001
NM_014762.4(DHCR24):c.798C>T (p.Phe266=) rs142421002 0.00001
NM_014762.4(DHCR24):c.*1121A>G rs886046415
NM_014762.4(DHCR24):c.*1137G>C rs768244621
NM_014762.4(DHCR24):c.*1535G>A rs1646870155
NM_014762.4(DHCR24):c.*180_*181del rs886046419
NM_014762.4(DHCR24):c.*2245A>T rs886046413
NM_014762.4(DHCR24):c.*225T>C rs886046418
NM_014762.4(DHCR24):c.*426G>A rs1646876717
NM_014762.4(DHCR24):c.*434A>T rs886046417
NM_014762.4(DHCR24):c.*508T>C rs886046416
NM_014762.4(DHCR24):c.*597T>C rs1646875615
NM_014762.4(DHCR24):c.*600G>A rs184125615
NM_014762.4(DHCR24):c.-27G>C rs532827290
NM_014762.4(DHCR24):c.-27G>T rs532827290
NM_014762.4(DHCR24):c.1024A>G (p.Ile342Val) rs2101555676
NM_014762.4(DHCR24):c.1143C>A (p.His381Gln)
NM_014762.4(DHCR24):c.1155G>A (p.Gln385=) rs1646893615
NM_014762.4(DHCR24):c.1228A>G (p.Ile410Val) rs1646890427
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg) rs2101578761
NM_014762.4(DHCR24):c.388-10G>T rs774425757
NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser) rs1557437639
NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu) rs138043637
NM_014762.4(DHCR24):c.811C>A (p.Leu271Ile) rs886042137

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