ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 8 by Invitae

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_001011.4(RPS7):c.459C>G (p.Leu153=) rs777622518 0.00011
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001011.4(RPS7):c.357-10A>G rs202032908 0.00009
NM_001011.4(RPS7):c.276C>G (p.Val92=) rs61730448 0.00008
NM_001011.4(RPS7):c.148-6C>T rs533287773 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001011.4(RPS7):c.543G>A (p.Thr181=) rs776954129 0.00005
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795 0.00004
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001011.4(RPS7):c.264T>C (p.Ser88=) rs1244488439 0.00002
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) rs779623517 0.00002
NM_001011.4(RPS7):c.99C>T (p.Asn33=) rs61732234 0.00002
NM_001011.4(RPS7):c.126G>A (p.Glu42=) rs777387773 0.00001
NM_001011.4(RPS7):c.137C>T (p.Thr46Met) rs1006838420 0.00001
NM_001011.4(RPS7):c.301C>T (p.Leu101=) rs1001502341 0.00001
NM_001011.4(RPS7):c.356+3G>A rs1161877660 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 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.462A>T (p.Ile154=) rs1478289413 0.00001
NM_001011.4(RPS7):c.525T>G (p.Gly175=) rs1392470365 0.00001
NM_001011.4(RPS7):c.66C>T (p.Gly22=) rs773617808 0.00001
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) rs939123022 0.00001
NC_000002.11:g.(?_3391395)_(3624240_?)dup
NC_000002.11:g.(?_3391395)_(3691708_?)dup
NC_000002.11:g.(?_3622941)_(3628472_?)dup
NM_001011.4(RPS7):c.-19+1G>T
NM_001011.4(RPS7):c.-19+2T>A
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
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.120C>A (p.Leu40=)
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
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+14C>A
NM_001011.4(RPS7):c.147+15C>T
NM_001011.4(RPS7):c.147+16C>T rs912491105
NM_001011.4(RPS7):c.147+5G>C
NM_001011.4(RPS7):c.147+6C>T rs760987417
NM_001011.4(RPS7):c.147+7T>C
NM_001011.4(RPS7):c.147+8G>A rs2147819351
NM_001011.4(RPS7):c.148-19T>A
NM_001011.4(RPS7):c.148-20A>C
NM_001011.4(RPS7):c.148-20A>G
NM_001011.4(RPS7):c.148-7_148-6delinsAA
NM_001011.4(RPS7):c.148-7del
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.177T>C (p.Ala59=)
NM_001011.4(RPS7):c.178A>G (p.Ile60Val)
NM_001011.4(RPS7):c.204A>G (p.Gln68=)
NM_001011.4(RPS7):c.216C>T (p.Phe72=) rs781328965
NM_001011.4(RPS7):c.230T>C (p.Val77Ala)
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.238G>A (p.Val80Ile)
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile) rs2147819948
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.276C>T (p.Val92=) rs61730448
NM_001011.4(RPS7):c.277G>A (p.Val93Ile) rs2147819964
NM_001011.4(RPS7):c.282T>A (p.Phe94Leu)
NM_001011.4(RPS7):c.291+19C>T
NM_001011.4(RPS7):c.292-7C>G
NM_001011.4(RPS7):c.292-8C>A
NM_001011.4(RPS7):c.292-8C>T rs373405472
NM_001011.4(RPS7):c.292-9A>T rs746941533
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.336T>C (p.Asn112=)
NM_001011.4(RPS7):c.34A>C (p.Asn12His) rs1661257045
NM_001011.4(RPS7):c.356+6T>C rs2147820884
NM_001011.4(RPS7):c.357-16dup
NM_001011.4(RPS7):c.357-20C>A
NM_001011.4(RPS7):c.357-3del rs140914434
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.366G>A (p.Leu122=) rs2147822425
NM_001011.4(RPS7):c.392A>T (p.Glu131Val)
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) rs1661370560
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.434G>A (p.Arg145His)
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
NM_001011.4(RPS7):c.447T>C (p.Asp149=) rs2147822460
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro) rs1241543942
NM_001011.4(RPS7):c.471T>C (p.His157=)
NM_001011.4(RPS7):c.479A>G (p.Lys160Arg)
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
NM_001011.4(RPS7):c.49G>C (p.Asp17His)
NM_001011.4(RPS7):c.508-10T>C
NM_001011.4(RPS7):c.508-12C>G rs2071639
NM_001011.4(RPS7):c.508-12_508-9del rs747706059
NM_001011.4(RPS7):c.508-16C>A
NM_001011.4(RPS7):c.508-9_508-5del
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001011.4(RPS7):c.519T>C (p.Phe173=) 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.72C>T (p.Ser24=)
NM_001011.4(RPS7):c.75+1G>T
NM_001011.4(RPS7):c.75+8G>T
NM_001011.4(RPS7):c.76-12G>A
NM_001011.4(RPS7):c.76-12G>C rs2147819267
NM_001011.4(RPS7):c.76-13C>G
NM_001011.4(RPS7):c.76-13C>T
NM_001011.4(RPS7):c.76-16G>A rs767920442
NM_001011.4(RPS7):c.76-8C>G
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe) rs758369264
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
NM_001011.4(RPS7):c.82C>T (p.Leu28=)

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