ClinVar Miner

List of variants reported as likely benign for Smith-Lemli-Opitz syndrome

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001163817.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.*161_*172del rs141483210
NM_001360.2(DHCR7):c.*451A>G rs11233662
NM_001360.2(DHCR7):c.-23T>C rs12573951
NM_001360.2(DHCR7):c.-35C>T rs75974711
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.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1134C>T (p.Ile378=) rs773505265
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.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.159C>T (p.Ile53=) rs752952700
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.288C>T (p.Ala96=) rs745595242
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
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.709C>T (p.Leu237=) rs755941916
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
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.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.2(DHCR7):c.99-5C>T rs372886043
NM_001360.3(DHCR7):c.*358C>T
NM_001360.3(DHCR7):c.*565G>A
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=)
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=)
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.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.606C>T (p.Phe202=)
NM_001360.3(DHCR7):c.690G>C (p.Gly230=)
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)

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