ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.89547
NM_001360.3(DHCR7):c.*734A>G rs7690 0.86392
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85171
NM_001360.3(DHCR7):c.*643C>T rs1044535 0.83967
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.-225C>T rs4944946 0.50840
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_001360.3(DHCR7):c.*480C>T rs1790345 0.28111
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08745
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04720
NM_001360.3(DHCR7):c.-35C>T rs75974711 0.02601
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 0.01207
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01042
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00911
NM_001360.3(DHCR7):c.*192C>T rs115338563 0.00889
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_001360.3(DHCR7):c.*226C>T rs185557595 0.00657
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00542
NM_001360.3(DHCR7):c.*28G>T rs114143715 0.00500
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00467
NM_001360.3(DHCR7):c.*755C>T rs58046295 0.00355
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00305
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00245
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.*779T>C rs541282653 0.00076
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00067
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001360.3(DHCR7):c.-6-4G>A rs183610891 0.00052
NM_001360.3(DHCR7):c.*424G>A rs886048616 0.00048
NM_001360.3(DHCR7):c.*85C>T rs528375215 0.00042
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00038
NM_001360.3(DHCR7):c.*324C>T rs759058043 0.00037
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_001360.3(DHCR7):c.*417C>T rs537429160 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00015
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.-34T>G rs145915789 0.00012
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00012
NM_001360.3(DHCR7):c.*790C>T rs12407 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00008
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00008
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.*57C>T rs182965373 0.00004
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn) rs369837196 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.*4C>T rs371307569 0.00003
NM_001360.3(DHCR7):c.*761A>T rs886048611 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile) rs759967245 0.00003
NM_001360.3(DHCR7):c.*261G>A rs886048617 0.00002
NM_001360.3(DHCR7):c.*700G>A rs886048612 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001360.3(DHCR7):c.*101C>G rs1466730753 0.00001
NM_001360.3(DHCR7):c.*25G>A rs778207094 0.00001
NM_001360.3(DHCR7):c.*644G>A rs886048614 0.00001
NM_001360.3(DHCR7):c.*765G>A rs777137931 0.00001
NM_001360.3(DHCR7):c.-132+3G>A rs886048618 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_001360.3(DHCR7):c.*20G>T rs747532529
NM_001360.3(DHCR7):c.*438G>A rs886048615
NM_001360.3(DHCR7):c.*63G>T rs918545080
NM_001360.3(DHCR7):c.*681T>C rs886048613
NM_001360.3(DHCR7):c.*723C>A rs1024548576
NM_001360.3(DHCR7):c.-192C>T rs886048619
NM_001360.3(DHCR7):c.-209G>A rs886048620
NM_001360.3(DHCR7):c.-225C>G rs4944946
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val) rs1949376985
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167

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