ClinVar Miner

List of variants studied for cherubism by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=) rs139626310 0.00005
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) rs757336022
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) rs151048521
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366

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