ClinVar Miner

List of variants in gene ASXL1 studied for Inborn genetic diseases

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00059
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_015338.6(ASXL1):c.3148A>G (p.Met1050Val) rs370804022 0.00020
NM_015338.6(ASXL1):c.2423C>A (p.Pro808His) rs141610022 0.00018
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015338.6(ASXL1):c.686C>T (p.Pro229Leu) rs576523117 0.00007
NM_015338.6(ASXL1):c.812G>C (p.Arg271Pro) rs576447224 0.00006
NM_015338.6(ASXL1):c.4396G>A (p.Gly1466Ser) rs763081912 0.00005
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) rs373126831 0.00003
NM_015338.6(ASXL1):c.2671G>A (p.Val891Ile) rs774520876 0.00003
NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter) rs1427299519 0.00001
NM_015338.6(ASXL1):c.2260A>T (p.Thr754Ser) rs749566656 0.00001
NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile) rs775227254 0.00001
NM_015338.6(ASXL1):c.2938A>G (p.Ile980Val) rs765264117 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015338.6(ASXL1):c.1072T>C (p.Tyr358His)
NM_015338.6(ASXL1):c.1202C>T (p.Thr401Ile)
NM_015338.6(ASXL1):c.1245T>A (p.Asp415Glu)
NM_015338.6(ASXL1):c.1250G>A (p.Arg417Gln)
NM_015338.6(ASXL1):c.1268A>G (p.Asn423Ser) rs886056598
NM_015338.6(ASXL1):c.1388G>C (p.Ser463Thr) rs373486603
NM_015338.6(ASXL1):c.1446dup (p.Val483fs) rs1555911515
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.1581T>G (p.Phe527Leu)
NM_015338.6(ASXL1):c.1591G>A (p.Ala531Thr)
NM_015338.6(ASXL1):c.1661G>A (p.Ser554Asn)
NM_015338.6(ASXL1):c.1829G>A (p.Gly610Asp)
NM_015338.6(ASXL1):c.1922T>G (p.Ile641Ser)
NM_015338.6(ASXL1):c.1991G>A (p.Ser664Asn)
NM_015338.6(ASXL1):c.2368G>A (p.Glu790Lys)
NM_015338.6(ASXL1):c.2375G>C (p.Gly792Ala)
NM_015338.6(ASXL1):c.2495A>G (p.Asp832Gly)
NM_015338.6(ASXL1):c.259G>T (p.Ala87Ser)
NM_015338.6(ASXL1):c.2722G>C (p.Val908Leu)
NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs) rs1555912285
NM_015338.6(ASXL1):c.2791del (p.Glu931fs) rs1555912296
NM_015338.6(ASXL1):c.2873C>T (p.Ser958Leu)
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)
NM_015338.6(ASXL1):c.2951A>T (p.Lys984Ile)
NM_015338.6(ASXL1):c.29A>G (p.Glu10Gly)
NM_015338.6(ASXL1):c.3094G>A (p.Asp1032Asn)
NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter) rs1555912419
NM_015338.6(ASXL1):c.322G>A (p.Val108Met)
NM_015338.6(ASXL1):c.3443G>A (p.Arg1148His) rs555465153
NM_015338.6(ASXL1):c.3482T>C (p.Met1161Thr)
NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)
NM_015338.6(ASXL1):c.3677T>A (p.Leu1226Gln)
NM_015338.6(ASXL1):c.3721G>A (p.Glu1241Lys)
NM_015338.6(ASXL1):c.3796C>T (p.Leu1266Phe)
NM_015338.6(ASXL1):c.3914T>G (p.Phe1305Cys)
NM_015338.6(ASXL1):c.395C>T (p.Ser132Leu)
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.4064A>G (p.Asp1355Gly)
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.4217T>C (p.Met1406Thr)
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter) rs754129466
NM_015338.6(ASXL1):c.4411G>A (p.Val1471Met)
NM_015338.6(ASXL1):c.514G>A (p.Val172Ile)
NM_015338.6(ASXL1):c.586G>A (p.Asp196Asn)
NM_015338.6(ASXL1):c.724A>G (p.Met242Val)
NM_015338.6(ASXL1):c.944A>T (p.His315Leu)

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