ClinVar Miner

List of variants in gene SGCG reported as pathogenic for not provided

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.230dup (p.Leu78fs) rs1432706111
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.735dup (p.Lys246fs) rs797044783
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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