ClinVar Miner

List of variants in gene ARFGEF2 studied for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) rs145439001 0.00041
NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg) rs149644732 0.00029
NM_006420.3(ARFGEF2):c.4939T>A (p.Ser1647Thr) rs587780281 0.00011
NM_006420.3(ARFGEF2):c.3056G>A (p.Arg1019His) rs144322567 0.00008
NM_006420.3(ARFGEF2):c.4790C>T (p.Thr1597Met) rs368410119 0.00007
NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met) rs532986318 0.00006
NM_006420.3(ARFGEF2):c.5024G>A (p.Arg1675His) rs778607741 0.00004
NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys) rs144190029 0.00003
NM_006420.3(ARFGEF2):c.4490A>T (p.Asp1497Val) rs768063246 0.00003
NM_006420.3(ARFGEF2):c.4715C>T (p.Thr1572Met) rs766756267 0.00002
NM_006420.3(ARFGEF2):c.3034C>T (p.Arg1012Cys) rs758071330 0.00001
NM_006420.3(ARFGEF2):c.3682G>A (p.Val1228Met) rs775296325 0.00001
NM_006420.3(ARFGEF2):c.4891A>G (p.Asn1631Asp) rs370851843 0.00001
NM_006420.3(ARFGEF2):c.1024G>T (p.Asp342Tyr)
NM_006420.3(ARFGEF2):c.1042T>A (p.Ser348Thr)
NM_006420.3(ARFGEF2):c.1216G>A (p.Val406Ile)
NM_006420.3(ARFGEF2):c.1651A>G (p.Met551Val)
NM_006420.3(ARFGEF2):c.1708A>C (p.Ile570Leu)
NM_006420.3(ARFGEF2):c.1790C>T (p.Thr597Met)
NM_006420.3(ARFGEF2):c.1948G>A (p.Gly650Ser)
NM_006420.3(ARFGEF2):c.2117A>G (p.Glu706Gly)
NM_006420.3(ARFGEF2):c.2200C>T (p.Arg734Cys)
NM_006420.3(ARFGEF2):c.2515A>G (p.Thr839Ala)
NM_006420.3(ARFGEF2):c.2672G>A (p.Arg891Gln)
NM_006420.3(ARFGEF2):c.2739T>G (p.Asp913Glu)
NM_006420.3(ARFGEF2):c.2798G>C (p.Cys933Ser)
NM_006420.3(ARFGEF2):c.2986A>G (p.Ile996Val)
NM_006420.3(ARFGEF2):c.3095G>A (p.Gly1032Glu)
NM_006420.3(ARFGEF2):c.3172G>A (p.Glu1058Lys)
NM_006420.3(ARFGEF2):c.3299A>T (p.Asp1100Val)
NM_006420.3(ARFGEF2):c.3619A>G (p.Ile1207Val)
NM_006420.3(ARFGEF2):c.3758-2A>C rs2091501415
NM_006420.3(ARFGEF2):c.3758-3del rs797045256
NM_006420.3(ARFGEF2):c.4058C>T (p.Thr1353Ile)
NM_006420.3(ARFGEF2):c.4451A>G (p.His1484Arg)
NM_006420.3(ARFGEF2):c.4511A>T (p.Asp1504Val)
NM_006420.3(ARFGEF2):c.4529A>G (p.Gln1510Arg)
NM_006420.3(ARFGEF2):c.4547A>G (p.Asp1516Gly)
NM_006420.3(ARFGEF2):c.4778T>G (p.Ile1593Ser)
NM_006420.3(ARFGEF2):c.4904G>A (p.Arg1635Gln)
NM_006420.3(ARFGEF2):c.5068T>G (p.Cys1690Gly)
NM_006420.3(ARFGEF2):c.5228T>G (p.Met1743Arg)
NM_006420.3(ARFGEF2):c.5267G>A (p.Arg1756Gln)
NM_006420.3(ARFGEF2):c.656C>T (p.Pro219Leu)
NM_006420.3(ARFGEF2):c.694C>G (p.Arg232Gly)
NM_006420.3(ARFGEF2):c.737A>T (p.Glu246Val)
NM_006420.3(ARFGEF2):c.815G>A (p.Arg272Lys)

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