ClinVar Miner

List of variants in gene EXT1 studied for Inborn genetic diseases

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00011
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys) rs750748090 0.00001
NM_000127.3(EXT1):c.1600G>C (p.Val534Leu) rs769496005 0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp) rs777698557 0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val) rs1823254644 0.00001
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn) rs1252579899 0.00001
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu) rs187891947 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His) rs376231630 0.00001
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu) rs778849200 0.00001
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1084A>G (p.Asn362Asp) rs2488132910
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser) rs1586280182
NM_000127.3(EXT1):c.1379dup (p.Tyr461fs)
NM_000127.3(EXT1):c.1436A>G (p.Lys479Arg) rs192596226
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1559A>C (p.Asp520Ala)
NM_000127.3(EXT1):c.1559A>G (p.Asp520Gly) rs2488106874
NM_000127.3(EXT1):c.1587G>A (p.Trp529Ter) rs763608530
NM_000127.3(EXT1):c.1798G>A (p.Asp600Asn)
NM_000127.3(EXT1):c.1841A>G (p.Asn614Ser) rs2488089162
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) rs2130044984
NM_000127.3(EXT1):c.2156A>T (p.His719Leu) rs751787859
NM_000127.3(EXT1):c.418G>A (p.Gly140Ser) rs1817880757
NM_000127.3(EXT1):c.460T>C (p.Phe154Leu)
NM_000127.3(EXT1):c.497T>C (p.Leu166Ser) rs2488051788
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.856G>C (p.Val286Leu) rs551552671
NM_000127.3(EXT1):c.918G>T (p.Lys306Asn) rs868526834

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