ClinVar Miner

List of variants in gene EXT1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_000127.3(EXT1):c.1633-26C>A rs188609829 0.00123
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091 0.00063
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656 0.00028
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000127.3(EXT1):c.1319G>A (p.Arg440His) rs144550328 0.00019
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu) rs1176457130 0.00016
NM_000127.3(EXT1):c.1284+25G>A rs375754024 0.00010
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg) rs145720047 0.00010
NM_000127.3(EXT1):c.1680C>T (p.Ala560=) rs540101738 0.00010
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090 0.00009
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val) rs188859975 0.00008
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) rs138855109 0.00005
NM_000127.3(EXT1):c.2178C>T (p.Pro726=) rs557560039 0.00005
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006 0.00003
NM_000127.3(EXT1):c.1338C>T (p.Asn446=) rs745637397 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634 0.00002
NM_000127.3(EXT1):c.1014T>G (p.Arg338=) rs750458103 0.00001
NM_000127.3(EXT1):c.1020C>T (p.Arg340=) rs886038242 0.00001
NM_000127.3(EXT1):c.2100G>A (p.Gln700=) rs747703304 0.00001
NM_000127.3(EXT1):c.1044G>A (p.Leu348=)
NM_000127.3(EXT1):c.1054C>T (p.Gln352Ter)
NM_000127.3(EXT1):c.1118dup (p.Asn373fs)
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
NM_000127.3(EXT1):c.1464_1465insAC (p.Pro489fs)
NM_000127.3(EXT1):c.1677C>T (p.Asp559=) rs752594306
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) rs1563873580
NM_000127.3(EXT1):c.1884-2A>G
NM_000127.3(EXT1):c.1888_1889insTTT (p.Tyr629_Tyr630insPhe)
NM_000127.3(EXT1):c.1952del (p.Asn651fs)
NM_000127.3(EXT1):c.202dup (p.Trp68fs)
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
NM_000127.3(EXT1):c.335del (p.Asn112fs)
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.995C>G (p.Thr332Ser)

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