ClinVar Miner

List of variants reported as likely pathogenic for intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_003108.4(SOX11):c.1097del (p.Ser366fs)
NM_003108.4(SOX11):c.1135_1150del (p.Gln379fs)
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
NM_003108.4(SOX11):c.1216del (p.Ser406fs) rs1572217107
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) rs2103276324
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln) rs2103276330
NM_003108.4(SOX11):c.152G>C (p.Arg51Pro)
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) rs2103276337
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu) rs2103276338
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe) rs1553327809
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
NM_003108.4(SOX11):c.293del (p.Phe98fs) rs1558373252
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.305C>T (p.Ala102Val) rs1665661372
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) rs1665662335
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) rs2103276750
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter) rs1441654871

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