ClinVar Miner

List of variants in gene EXT2 reported as likely pathogenic for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) rs753973135 0.00002
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NM_207122.2(EXT2):c.1496-1G>C
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)
NM_207122.2(EXT2):c.1733del (p.Asn578fs)
NM_207122.2(EXT2):c.1778del (p.Val593fs)
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) rs1590667793
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) rs2134984829
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter)
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs) rs2135015566

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