ClinVar Miner

List of variants in gene RPS7 reported as uncertain significance for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001011.4(RPS7):c.-27C>T rs573443780 0.00006
NM_001011.4(RPS7):c.-3G>A rs751847851 0.00006
NM_001011.4(RPS7):c.-86C>T rs186304514 0.00003
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) rs779623517 0.00002
NM_001011.4(RPS7):c.-13C>T rs765604580 0.00001
NM_001011.4(RPS7):c.137C>T (p.Thr46Met) rs1006838420 0.00001
NM_001011.4(RPS7):c.356+3G>A rs1161877660 0.00001
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys) rs200400906 0.00001
NM_001011.4(RPS7):c.436G>A (p.Val146Ile) rs367770078 0.00001
NM_001011.4(RPS7):c.452G>T (p.Ser151Ile) rs1461848852 0.00001
NM_001011.4(RPS7):c.580T>C (p.Leu194=) rs1480952113 0.00001
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) rs939123022 0.00001
NC_000002.11:g.(?_3622941)_(3628472_?)dup
NM_001011.4(RPS7):c.-19+1del
NM_001011.4(RPS7):c.-19G>C
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.113C>T (p.Ala38Val) rs929660330
NM_001011.4(RPS7):c.118C>G (p.Leu40Val)
NM_001011.4(RPS7):c.118C>T (p.Leu40Phe)
NM_001011.4(RPS7):c.133A>G (p.Ile45Val) rs1661264441
NM_001011.4(RPS7):c.142G>T (p.Ala48Ser)
NM_001011.4(RPS7):c.147+5G>C
NM_001011.4(RPS7):c.147+6C>T rs760987417
NM_001011.4(RPS7):c.148-7_148-6delinsAA
NM_001011.4(RPS7):c.14G>A (p.Ser5Asn) rs2147819095
NM_001011.4(RPS7):c.156A>C (p.Glu52Asp) rs1178926489
NM_001011.4(RPS7):c.157G>A (p.Val53Ile) rs144178741
NM_001011.4(RPS7):c.169C>T (p.Arg57Trp) rs756780024
NM_001011.4(RPS7):c.178A>G (p.Ile60Val)
NM_001011.4(RPS7):c.204A>G (p.Gln68=)
NM_001011.4(RPS7):c.230T>C (p.Val77Ala)
NM_001011.4(RPS7):c.238G>A (p.Val80Ile)
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile) rs2147819948
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.277G>A (p.Val93Ile) rs2147819964
NM_001011.4(RPS7):c.282T>A (p.Phe94Leu)
NM_001011.4(RPS7):c.311C>T (p.Pro104Leu) rs1405342101
NM_001011.4(RPS7):c.31C>T (p.Pro11Ser) rs1661256950
NM_001011.4(RPS7):c.333A>C (p.Lys111Asn)
NM_001011.4(RPS7):c.34A>C (p.Asn12His) rs1661257045
NM_001011.4(RPS7):c.356+6T>C rs2147820884
NM_001011.4(RPS7):c.357-3del rs140914434
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.392A>T (p.Glu131Val)
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) rs1661370560
NM_001011.4(RPS7):c.434G>A (p.Arg145His)
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro) rs1241543942
NM_001011.4(RPS7):c.479A>G (p.Lys160Arg)
NM_001011.4(RPS7):c.49G>C (p.Asp17His)
NM_001011.4(RPS7):c.508-12_508-9del rs747706059
NM_001011.4(RPS7):c.508-9_508-5del
NM_001011.4(RPS7):c.508G>T (p.Val170Phe)
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001011.4(RPS7):c.520T>G (p.Ser174Ala) rs1367450977
NM_001011.4(RPS7):c.521C>G (p.Ser174Cys) rs14742
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001011.4(RPS7):c.542C>T (p.Thr181Met)
NM_001011.4(RPS7):c.545G>A (p.Gly182Asp)
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe) rs758369264

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