ClinVar Miner

List of variants in gene SHOC2 reported as likely benign by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala) rs768411950 0.00005
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010

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