ClinVar Miner

List of variants in gene EFEMP2 reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) rs61740381 0.00094
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00035
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00013
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) rs781700061 0.00004
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.157C>G (p.Arg53Gly) rs936904481 0.00001
NM_016938.5(EFEMP2):c.20G>T (p.Cys7Phe) rs960665217 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.608-2A>G rs1224841813 0.00001
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00001
NM_016938.5(EFEMP2):c.769C>T (p.Arg257Cys) rs972435635 0.00001
NM_016938.5(EFEMP2):c.770G>A (p.Arg257His) rs202124723 0.00001
NM_016938.5(EFEMP2):c.80C>T (p.Pro27Leu) rs770178569 0.00001
NM_016938.5(EFEMP2):c.17C>T (p.Ser6Phe)
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.389C>A (p.Ala130Asp)
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.436T>C (p.Ser146Pro)
NM_016938.5(EFEMP2):c.509A>T (p.Tyr170Phe) rs1247980345
NM_016938.5(EFEMP2):c.564C>T (p.Cys188=)
NM_016938.5(EFEMP2):c.595C>A (p.Arg199Ser) rs766531680
NM_016938.5(EFEMP2):c.809C>T (p.Pro270Leu) rs2495574730
NM_016938.5(EFEMP2):c.989C>G (p.Pro330Arg) rs781029572

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