ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP
NC_000011.10:g.(?_71441217)_(71441450_?)del
NC_000011.10:g.(?_71441217)_(71444962_?)del
NC_000011.10:g.(?_71443983)_(71444962_?)del
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001163817.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
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.1134C>T (p.Ile378=) rs773505265
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1152C>T (p.Ser384=) rs145084285
NM_001360.2(DHCR7):c.1155C>T (p.Ala385=) rs777517985
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.126C>T (p.Ser42=) rs150928869
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) rs104886035
NM_001360.2(DHCR7):c.159C>T (p.Ile53=) rs752952700
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.288C>T (p.Ala96=) rs745595242
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.412+3A>G
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
NM_001360.2(DHCR7):c.549C>T (p.Cys183=) rs115446684
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.582C>T (p.Phe194=) rs150603941
NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) rs373121544
NM_001360.2(DHCR7):c.709C>T (p.Leu237=) rs755941916
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.723G>T (p.Gly241=) rs369654651
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
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.852C>A (p.Phe284Leu)
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp)
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.2(DHCR7):c.99-5C>T rs372886043
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=)
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)
NM_001360.3(DHCR7):c.1325A>G (p.His442Arg)
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)
NM_001360.3(DHCR7):c.147C>T (p.Phe49=)
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)
NM_001360.3(DHCR7):c.261C>A (p.Ala87=)
NM_001360.3(DHCR7):c.282G>A (p.Arg94=)
NM_001360.3(DHCR7):c.303C>T (p.Thr101=)
NM_001360.3(DHCR7):c.336G>A (p.Thr112=)
NM_001360.3(DHCR7):c.369C>T (p.Pro123=)
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro)
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.483C>T (p.Asn161=)
NM_001360.3(DHCR7):c.513C>T (p.Thr171=)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=)
NM_001360.3(DHCR7):c.579C>G (p.Thr193=)
NM_001360.3(DHCR7):c.690G>C (p.Gly230=)
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.99-10G>A

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