ClinVar Miner

List of variants in gene RPS7 reported as likely benign for aplastic anemia

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
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.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.126G>A (p.Glu42=) rs777387773 0.00001
NM_001011.4(RPS7):c.301C>T (p.Leu101=) rs1001502341 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.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.-109C>T rs142444366
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
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+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.177T>C (p.Ala59=)
NM_001011.4(RPS7):c.216C>T (p.Phe72=) rs781328965
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
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.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.276C>T (p.Val92=) rs61730448
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.336T>C (p.Asn112=)
NM_001011.4(RPS7):c.357-20C>A
NM_001011.4(RPS7):c.366G>A (p.Leu122=) rs2147822425
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
NM_001011.4(RPS7):c.447T>C (p.Asp149=) rs2147822460
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.471T>C (p.His157=)
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
NM_001011.4(RPS7):c.508-10T>C
NM_001011.4(RPS7):c.508-12C>G rs2071639
NM_001011.4(RPS7):c.519T>C (p.Phe173=) rs1572360947
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
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.81T>A (p.Leu27=)
NM_001011.4(RPS7):c.82C>T (p.Leu28=)

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