ClinVar Miner

List of variants in gene EXT1 reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1015_1017del (p.Gly339del) rs1057518031
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) rs119103290
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) rs978347552
NM_000127.3(EXT1):c.1057-2A>C
NM_000127.3(EXT1):c.1164+1del rs1057518623
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1537-2A>C rs1554578710
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.3(EXT1):c.579dup (p.Asn194Ter) rs1554601519
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) rs1563659325

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