ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Failure to thrive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6233del (p.Pro2078fs) rs886039779

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