ClinVar Miner

List of variants in gene ASXL1 reported by ITMI

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.2444= (p.Pro815=) rs6058694 0.99998
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.03000
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) rs6058693 0.02141
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00137
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_015338.6(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203 0.00073
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00060
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795 0.00024
NM_015338.6(ASXL1):c.3761A>G (p.Asn1254Ser) rs587778059 0.00016
NM_015338.6(ASXL1):c.3083C>T (p.Ser1028Leu) rs200702600 0.00014
NM_015338.6(ASXL1):c.656G>T (p.Gly219Val) rs587778064 0.00008
NM_015338.6(ASXL1):c.3442C>T (p.Arg1148Cys) rs139435094 0.00005
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062 0.00004
NM_015338.6(ASXL1):c.1388G>A (p.Ser463Asn) rs373486603 0.00003
NM_015338.6(ASXL1):c.3817C>T (p.Arg1273Cys) rs587778060 0.00002
NM_015338.6(ASXL1):c.1817G>A (p.Arg606Gln) rs587778061 0.00001
NM_015338.6(ASXL1):c.3662C>A (p.Thr1221Lys) rs545612479 0.00001
NM_015338.6(ASXL1):c.683C>T (p.Ala228Val) rs587778063 0.00001
NM_015338.6(ASXL1):c.999G>T (p.Met333Ile) rs587778058

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