ClinVar Miner

List of variants in gene EXT1 reported as uncertain significance for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
NM_000127.3(EXT1):c.113A>G (p.Glu38Gly) rs794726874 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.1138A>T (p.Ile380Leu) rs747020325
NM_000127.3(EXT1):c.1333T>C (p.Trp445Arg) rs1554579012
NM_000127.3(EXT1):c.1642A>C (p.Ser548Arg) rs780189656
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) rs2129679879
NM_000127.3(EXT1):c.2191G>C (p.Asp731His) rs2129679539
NM_000127.3(EXT1):c.2233C>T (p.Arg745Ter) rs756691505
NM_000127.3(EXT1):c.237C>A (p.His79Gln)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.808_810del (p.Arg270del) rs794726875
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) rs1064793786

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