ClinVar Miner

List of variants in gene ARFGEF1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_006421.5(ARFGEF1):c.1082T>G (p.Ile361Arg)
NM_006421.5(ARFGEF1):c.1085A>G (p.Glu362Gly)
NM_006421.5(ARFGEF1):c.1145T>G (p.Val382Gly)
NM_006421.5(ARFGEF1):c.1148C>A (p.Ala383Glu) rs2491723540
NM_006421.5(ARFGEF1):c.1232C>T (p.Pro411Leu)
NM_006421.5(ARFGEF1):c.1271T>G (p.Phe424Cys)
NM_006421.5(ARFGEF1):c.136G>A (p.Ala46Thr) rs2491950123
NM_006421.5(ARFGEF1):c.1387A>G (p.Ile463Val) rs2491689432
NM_006421.5(ARFGEF1):c.140A>C (p.Glu47Ala)
NM_006421.5(ARFGEF1):c.1448A>G (p.Gln483Arg)
NM_006421.5(ARFGEF1):c.1456T>C (p.Cys486Arg)
NM_006421.5(ARFGEF1):c.1457G>A (p.Cys486Tyr)
NM_006421.5(ARFGEF1):c.1481T>G (p.Val494Gly)
NM_006421.5(ARFGEF1):c.1633A>G (p.Lys545Glu)
NM_006421.5(ARFGEF1):c.1796G>A (p.Gly599Asp)
NM_006421.5(ARFGEF1):c.1807G>C (p.Val603Leu) rs1348395111
NM_006421.5(ARFGEF1):c.1865G>A (p.Cys622Tyr) rs1804875521
NM_006421.5(ARFGEF1):c.1869G>C (p.Met623Ile)
NM_006421.5(ARFGEF1):c.1922-2A>G rs2491650155
NM_006421.5(ARFGEF1):c.1924C>T (p.Gln642Ter)
NM_006421.5(ARFGEF1):c.2106A>G (p.Ile702Met)
NM_006421.5(ARFGEF1):c.2225G>A (p.Arg742Lys)
NM_006421.5(ARFGEF1):c.2316_2317del (p.Ser773fs)
NM_006421.5(ARFGEF1):c.2345G>A (p.Arg782His)
NM_006421.5(ARFGEF1):c.2428G>A (p.Glu810Lys)
NM_006421.5(ARFGEF1):c.2482G>A (p.Ala828Thr) rs2491588834
NM_006421.5(ARFGEF1):c.2581G>T (p.Asp861Tyr)
NM_006421.5(ARFGEF1):c.2672C>T (p.Thr891Ile)
NM_006421.5(ARFGEF1):c.2699-2A>T
NM_006421.5(ARFGEF1):c.2719AGA[1] (p.Arg908del)
NM_006421.5(ARFGEF1):c.2732A>G (p.Tyr911Cys)
NM_006421.5(ARFGEF1):c.2743A>G (p.Met915Val) rs2491545243
NM_006421.5(ARFGEF1):c.287T>A (p.Val96Asp) rs1301714952
NM_006421.5(ARFGEF1):c.2979+3A>G
NM_006421.5(ARFGEF1):c.3089T>G (p.Ile1030Ser)
NM_006421.5(ARFGEF1):c.3107A>G (p.Asp1036Gly)
NM_006421.5(ARFGEF1):c.3124A>G (p.Asn1042Asp)
NM_006421.5(ARFGEF1):c.3151A>T (p.Ile1051Phe) rs2491448664
NM_006421.5(ARFGEF1):c.3272T>A (p.Phe1091Tyr)
NM_006421.5(ARFGEF1):c.3362T>G (p.Val1121Gly)
NM_006421.5(ARFGEF1):c.3374T>G (p.Val1125Gly)
NM_006421.5(ARFGEF1):c.3421+1G>T rs2491372129
NM_006421.5(ARFGEF1):c.3508G>T (p.Val1170Leu)
NM_006421.5(ARFGEF1):c.3616G>T (p.Val1206Leu)
NM_006421.5(ARFGEF1):c.3719T>G (p.Phe1240Cys)
NM_006421.5(ARFGEF1):c.3752C>G (p.Thr1251Arg)
NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter) rs146133956
NM_006421.5(ARFGEF1):c.4207A>G (p.Arg1403Gly) rs2491343178
NM_006421.5(ARFGEF1):c.4240A>C (p.Thr1414Pro)
NM_006421.5(ARFGEF1):c.4244_4245del (p.Tyr1415fs) rs2491301318
NM_006421.5(ARFGEF1):c.4266C>G (p.His1422Gln)
NM_006421.5(ARFGEF1):c.4328A>C (p.Gln1443Pro)
NM_006421.5(ARFGEF1):c.4338G>A (p.Glu1446=)
NM_006421.5(ARFGEF1):c.4370A>G (p.His1457Arg)
NM_006421.5(ARFGEF1):c.4435G>A (p.Asp1479Asn)
NM_006421.5(ARFGEF1):c.446T>A (p.Leu149Gln)
NM_006421.5(ARFGEF1):c.4614-10T>G
NM_006421.5(ARFGEF1):c.4645A>C (p.Thr1549Pro)
NM_006421.5(ARFGEF1):c.4662_4667del (p.Ser1555_Pro1556del)
NM_006421.5(ARFGEF1):c.4676A>G (p.Glu1559Gly)
NM_006421.5(ARFGEF1):c.4687-10del rs3837216
NM_006421.5(ARFGEF1):c.4899C>G (p.Asn1633Lys)
NM_006421.5(ARFGEF1):c.4913C>T (p.Pro1638Leu)
NM_006421.5(ARFGEF1):c.491_492del (p.Ile164fs)
NM_006421.5(ARFGEF1):c.5006G>A (p.Gly1669Glu)
NM_006421.5(ARFGEF1):c.5109G>C (p.Arg1703Ser)
NM_006421.5(ARFGEF1):c.5167G>A (p.Glu1723Lys)
NM_006421.5(ARFGEF1):c.5210T>A (p.Met1737Lys)
NM_006421.5(ARFGEF1):c.5222A>G (p.Glu1741Gly)
NM_006421.5(ARFGEF1):c.5241G>C (p.Trp1747Cys)
NM_006421.5(ARFGEF1):c.5320C>G (p.Arg1774Gly) rs1838287933
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter) rs1838287933
NM_006421.5(ARFGEF1):c.5331G>A (p.Trp1777Ter)
NM_006421.5(ARFGEF1):c.5340dup (p.Leu1781fs) rs1838287386
NM_006421.5(ARFGEF1):c.5388T>G (p.Phe1796Leu)
NM_006421.5(ARFGEF1):c.5440G>A (p.Asp1814Asn)
NM_006421.5(ARFGEF1):c.5536A>C (p.Ile1846Leu)
NM_006421.5(ARFGEF1):c.5549G>T (p.Ter1850Leu) rs1169137153
NM_006421.5(ARFGEF1):c.575C>T (p.Thr192Ile)
NM_006421.5(ARFGEF1):c.599A>C (p.Gln200Pro) rs2491895026
NM_006421.5(ARFGEF1):c.640-2A>C rs758229522
NM_006421.5(ARFGEF1):c.74T>C (p.Val25Ala)
NM_006421.5(ARFGEF1):c.806C>A (p.Thr269Lys)
NM_006421.5(ARFGEF1):c.901_902delinsAA (p.Ala301Lys) rs2128909573
NM_006421.5(ARFGEF1):c.923C>A (p.Ser308Tyr)

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