ClinVar Miner

List of variants in gene RUSC2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014806.5(RUSC2):c.2416G>A (p.Glu806Lys) rs41277053 0.00549
NM_014806.5(RUSC2):c.1071T>G (p.Pro357=) rs141631057 0.00294
NM_014806.5(RUSC2):c.1272C>T (p.His424=) rs149371934 0.00268
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_014806.5(RUSC2):c.4326A>T (p.Pro1442=) rs146446376 0.00133
NM_014806.5(RUSC2):c.1531C>T (p.Leu511=) rs142635607 0.00078
NM_014806.5(RUSC2):c.246C>T (p.Asp82=) rs146775798 0.00040
NM_014806.5(RUSC2):c.594G>A (p.Glu198=) rs147951598 0.00028
NM_014806.5(RUSC2):c.3129C>T (p.Ala1043=) rs148269529 0.00020
NM_014806.5(RUSC2):c.3441C>T (p.Thr1147=) rs746936921 0.00005
NM_014806.5(RUSC2):c.1667G>A (p.Gly556Asp) rs200887792 0.00004
NM_014806.5(RUSC2):c.2844C>T (p.Gly948=) rs200035921 0.00004
NM_014806.5(RUSC2):c.3174C>T (p.Asp1058=) rs756520066 0.00004
NM_014806.5(RUSC2):c.3384C>T (p.His1128=) rs200237183 0.00004
NM_014806.5(RUSC2):c.2325G>A (p.Ser775=) rs767118616 0.00001
NM_014806.5(RUSC2):c.351G>A (p.Leu117=) rs1247116211 0.00001
NM_014806.5(RUSC2):c.4269A>G (p.Thr1423=) rs758912055 0.00001
NM_014806.5(RUSC2):c.435T>A (p.Ser145=) rs1200120971 0.00001
NM_014806.5(RUSC2):c.1295_1306del (p.Gly432_Pro435del) rs749692537
NM_014806.5(RUSC2):c.174C>T (p.Asp58=)
NM_014806.5(RUSC2):c.2745C>T (p.Asp915=) rs200958975
NM_014806.5(RUSC2):c.3138C>T (p.Ala1046=)
NM_014806.5(RUSC2):c.3210T>C (p.Ser1070=)
NM_014806.5(RUSC2):c.3762C>A (p.Ala1254=)
NM_014806.5(RUSC2):c.4194G>A (p.Glu1398=) rs1822141624

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