ClinVar Miner

List of variants reported as uncertain significance for Smith-Lemli-Opitz syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
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.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) rs772572550 0.00008
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.-145C>G rs1398299576 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val) rs1949272319
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe) rs1565584679
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe) rs1949346801
NM_001360.3(DHCR7):c.560T>C (p.Leu187Pro) rs1565587998
NM_001360.3(DHCR7):c.626+7T>A rs1949344052
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala) rs976105626
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg) rs943223142
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu) rs1949301977
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro) rs1949301409

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