ClinVar Miner

List of variants reported as likely benign for septooptic dysplasia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_003865.3(HESX1):c.255G>A (p.Ser85=) rs146029258 0.00022
NM_003865.3(HESX1):c.33C>T (p.Leu11=) rs775835444 0.00005
NM_003865.3(HESX1):c.517C>T (p.Leu173=) rs760501622 0.00001
NM_003865.3(HESX1):c.102C>T (p.Asp34=)
NM_003865.3(HESX1):c.105T>C (p.Cys35=)
NM_003865.3(HESX1):c.150C>T (p.Ser50=) rs1299316380
NM_003865.3(HESX1):c.157+19G>T
NM_003865.3(HESX1):c.303A>G (p.Arg101=)
NM_003865.3(HESX1):c.318T>C (p.Tyr106=)
NM_003865.3(HESX1):c.358-20T>C
NM_003865.3(HESX1):c.459+15T>C
NM_003865.3(HESX1):c.459+18T>C
NM_003865.3(HESX1):c.460-10T>A
NM_003865.3(HESX1):c.460-7A>G rs1579346889
NM_003865.3(HESX1):c.498C>T (p.Ser166=)
NM_003865.3(HESX1):c.75A>G (p.Arg25=)

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