ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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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_014762.4(DHCR24):c.1026T>C (p.Ile342=) rs718265 0.66290
NM_014762.4(DHCR24):c.*1584T>C rs7374 0.40034
NM_014762.4(DHCR24):c.*2295G>C rs7373 0.39999
NM_014762.4(DHCR24):c.*221C>T rs1138030 0.19892
NM_014762.4(DHCR24):c.*324T>C rs74072036 0.08213
NM_014762.4(DHCR24):c.*1488C>T rs8990 0.07841
NM_014762.4(DHCR24):c.*788A>G rs9436941 0.03198
NM_014762.4(DHCR24):c.*462G>A rs648804 0.03193
NM_014762.4(DHCR24):c.*1965C>A rs11555500 0.02394
NM_014762.4(DHCR24):c.*1677T>C rs74496507 0.02139
NM_014762.4(DHCR24):c.180C>T (p.Leu60=) rs79857573 0.01223
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn) rs11555496 0.00570
NM_014762.4(DHCR24):c.*913C>T rs114343980 0.00451
NM_014762.4(DHCR24):c.*115C>T rs201545563 0.00378
NM_014762.4(DHCR24):c.-51G>T rs17552526 0.00243
NM_014762.4(DHCR24):c.*653G>A rs372344030 0.00027

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