ClinVar Miner

List of variants in gene SHOC2 studied for Noonan syndrome

Included ClinVar conditions (43):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) rs1848438761
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe) rs2134121762
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599

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