ClinVar Miner

List of variants reported as benign for cholesterol metabolism disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_014762.4(DHCR24):c.*2555A>G rs657688 0.99941
NM_014762.4(DHCR24):c.1020+10A>G rs611057 0.99149
NM_014762.4(DHCR24):c.*1824T>G rs654561 0.98973
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.*734A>G rs7690 0.86392
NM_001360.3(DHCR7):c.832-80T>C rs949176 0.86228
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001360.3(DHCR7):c.*643C>T rs1044535 0.84530
NM_001360.3(DHCR7):c.831+69G>A rs1792265 0.83923
NM_001360.3(DHCR7):c.964-67C>T rs1792268 0.83849
NM_006918.5(SC5D):c.*81A>C rs1061332 0.72847
NM_014762.4(DHCR24):c.1026T>C (p.Ile342=) rs718265 0.66290
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_001360.3(DHCR7):c.322-60G>T rs11603330 0.53778
NM_006918.5(SC5D):c.*1626A>T rs2060008 0.49477
NM_006918.5(SC5D):c.*4924T>C rs35288685 0.46507
NM_014762.4(DHCR24):c.*1584T>C rs7374 0.40034
NM_014762.4(DHCR24):c.*2295G>C rs7373 0.39999
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001360.3(DHCR7):c.*480C>T rs1790345 0.28111
NM_014762.4(DHCR24):c.*221C>T rs1138030 0.19892
NM_006918.5(SC5D):c.*3627A>G rs2115925 0.10559
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_014762.4(DHCR24):c.*324T>C rs74072036 0.08213
NM_014762.4(DHCR24):c.*1488C>T rs8990 0.07841
NM_006918.5(SC5D):c.*1328C>T rs7942396 0.07530
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_006918.5(SC5D):c.*2986C>T rs141633273 0.06779
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001360.3(DHCR7):c.321+34C>A rs76865413 0.05265
NM_014762.4(DHCR24):c.*788A>G rs9436941 0.03198
NM_014762.4(DHCR24):c.*462G>A rs648804 0.03193
NM_006918.5(SC5D):c.*5224A>G rs76249891 0.03180
NM_014762.4(DHCR24):c.*1965C>A rs11555500 0.02394
NM_014762.4(DHCR24):c.*1677T>C rs74496507 0.02139
NM_006918.5(SC5D):c.*5742T>C rs73592766 0.02058
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001360.3(DHCR7):c.627-29T>G rs74742701 0.01323
NM_014762.4(DHCR24):c.180C>T (p.Leu60=) rs79857573 0.01223
NM_006918.5(SC5D):c.*3345C>T rs79862582 0.01118
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
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.360C>T (p.Asp120=) rs61733134 0.00798
NM_006918.5(SC5D):c.*1851C>G rs73592762 0.00797
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_006918.5(SC5D):c.*3196C>T rs111744316 0.00745
NM_006918.5(SC5D):c.*2662G>A rs7125671 0.00682
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn) rs11555496 0.00570
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_014762.4(DHCR24):c.*913C>T rs114343980 0.00451
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_014762.4(DHCR24):c.*115C>T rs201545563 0.00378
NM_006918.5(SC5D):c.*2265C>G rs140956982 0.00353
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_014762.4(DHCR24):c.-51G>T rs17552526 0.00243
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_006918.5(SC5D):c.544A>G (p.Ile182Val) rs144180704 0.00116
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_006918.5(SC5D):c.*3472A>G rs138274984 0.00064
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_014762.4(DHCR24):c.*653G>A rs372344030 0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_006918.5(SC5D):c.*3070C>T rs563938795 0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271 0.00002
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_001360.3(DHCR7):c.-225C>G rs4944946
NM_001360.3(DHCR7):c.-225C>T rs4944946
NM_001360.3(DHCR7):c.321+219C>T rs12422045
NM_001360.3(DHCR7):c.964-8dup rs1305056733
NM_006918.5(SC5D):c.*2962del rs5795265

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