ClinVar Miner

List of variants reported as likely benign for Desmosterolosis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014762.4(DHCR24):c.*218C>A rs145558556 0.00942
NM_014762.4(DHCR24):c.*102C>T rs114267476 0.00523
NM_014762.4(DHCR24):c.*2442G>T rs115017311 0.00323
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_014762.4(DHCR24):c.*392C>T rs116490123 0.00293
NM_014762.4(DHCR24):c.1020+11G>A rs555618086 0.00258
NM_014762.4(DHCR24):c.*718G>A rs74072035 0.00232
NM_014762.4(DHCR24):c.*2084G>A rs74072034 0.00226
NM_014762.4(DHCR24):c.*2200G>A rs558575804 0.00154
NM_014762.4(DHCR24):c.*2554C>T rs144220338 0.00148
NM_014762.4(DHCR24):c.*393G>A rs146650872 0.00057
NM_014762.4(DHCR24):c.*731T>C rs116289873 0.00056
NM_014762.4(DHCR24):c.*480C>T rs576670614 0.00054
NM_014762.4(DHCR24):c.639C>T (p.Ala213=) rs143779194 0.00044
NM_014762.4(DHCR24):c.-62G>A rs537895939 0.00039
NM_014762.4(DHCR24):c.*944C>T rs79299252 0.00013
NM_014762.4(DHCR24):c.*42G>A rs200380515 0.00006
NM_014762.4(DHCR24):c.*2081G>A rs373752257

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