ClinVar Miner

List of variants reported as uncertain significance for Shprintzen-Goldberg syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511

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