ClinVar Miner

List of variants reported as likely benign for cholesterol metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04501
NM_001360.3(DHCR7):c.-35C>T rs75974711 0.02735
NM_001360.3(DHCR7):c.*451A>G rs11233662 0.01903
NM_001360.3(DHCR7):c.*565G>A rs79320071 0.01308
NM_001360.3(DHCR7):c.*358C>T rs78575838 0.01306
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_006918.5(SC5D):c.*5324_*5325del rs199751132 0.00991
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_014762.4(DHCR24):c.*218C>A rs145558556 0.00942
NM_006918.5(SC5D):c.211-8A>T rs116993308 0.00730
NM_006918.5(SC5D):c.*4912C>T rs148376006 0.00598
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_014762.4(DHCR24):c.*102C>T rs114267476 0.00523
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_014762.4(DHCR24):c.*2442G>T rs115017311 0.00323
NM_006918.5(SC5D):c.*4342C>T rs149181033 0.00317
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_014762.4(DHCR24):c.*392C>T rs116490123 0.00293
NM_006918.5(SC5D):c.*3699G>A rs546816764 0.00287
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_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_014762.4(DHCR24):c.*2200G>A rs558575804 0.00154
NM_014762.4(DHCR24):c.*2554C>T rs144220338 0.00148
NM_006918.5(SC5D):c.*1468C>G rs187197929 0.00103
NM_006918.5(SC5D):c.*1195A>G rs182551279 0.00058
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_006918.5(SC5D):c.*263G>A rs146228207 0.00037
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_006918.5(SC5D):c.343+3A>G rs186378511 0.00015
NM_014762.4(DHCR24):c.*944C>T rs79299252 0.00013
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_014762.4(DHCR24):c.*42G>A rs200380515 0.00006
NM_006918.5(SC5D):c.*2183C>G rs576310551 0.00001
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_014762.4(DHCR24):c.*2081G>A rs373752257

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