ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_001163817.2(DHCR7):c.289G>A (p.Ala97Thr) rs150563256
NM_001163817.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.*119G>A rs151230950
NM_001360.2(DHCR7):c.*161_*172del rs141483210
NM_001360.2(DHCR7):c.*25G>A rs778207094
NM_001360.2(DHCR7):c.*261G>A rs886048617
NM_001360.2(DHCR7):c.*324C>T rs759058043
NM_001360.2(DHCR7):c.*417C>T rs537429160
NM_001360.2(DHCR7):c.*424G>A rs886048616
NM_001360.2(DHCR7):c.*438G>A rs886048615
NM_001360.2(DHCR7):c.*451A>G rs11233662
NM_001360.2(DHCR7):c.*480C>T rs1790345
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*644G>A rs886048614
NM_001360.2(DHCR7):c.*681T>C rs886048613
NM_001360.2(DHCR7):c.*700G>A rs886048612
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.*761A>T rs886048611
NM_001360.2(DHCR7):c.*765G>A rs777137931
NM_001360.2(DHCR7):c.*779T>C rs541282653
NM_001360.2(DHCR7):c.*790C>T rs12407
NM_001360.2(DHCR7):c.-132+3G>A rs886048618
NM_001360.2(DHCR7):c.-192C>T rs886048619
NM_001360.2(DHCR7):c.-195G>T rs141057811
NM_001360.2(DHCR7):c.-209G>A rs886048620
NM_001360.2(DHCR7):c.-225C>G rs4944946
NM_001360.2(DHCR7):c.-225C>T rs4944946
NM_001360.2(DHCR7):c.-23T>C rs12573951
NM_001360.2(DHCR7):c.-34T>G rs145915789
NM_001360.2(DHCR7):c.-35C>T rs75974711
NM_001360.2(DHCR7):c.-6-4G>A rs183610891
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.241C>T (p.Arg81Trp) rs775735710
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.99-5C>T rs372886043

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