ClinVar Miner

List of variants in gene SHOC2 reported as likely benign for Noonan syndrome-like disorder with loose anagen hair

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_007373.3(SHOC2):c.*1062dup rs530047047
NM_007373.3(SHOC2):c.*1775del rs527775221
NM_007373.3(SHOC2):c.*506_*509del rs371679867
NM_007373.3(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.1215A>G (p.Val405=)

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