ClinVar Miner

List of variants studied for Ataxia-pancytopenia syndrome

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg) rs199714577 0.00022
NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro) rs146611034 0.00015
NM_152703.5(SAMD9L):c.659A>G (p.Glu220Gly) rs202158782 0.00011
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln) rs200160724 0.00010
NM_152703.5(SAMD9L):c.4508C>T (p.Thr1503Ile) rs372802865 0.00008
NM_152703.5(SAMD9L):c.626C>T (p.Thr209Met) rs376481930 0.00006
NM_152703.5(SAMD9L):c.390A>C (p.Lys130Asn) rs773313289 0.00004
NM_152703.5(SAMD9L):c.483G>T (p.Leu161Phe) rs375402434 0.00004
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_152703.5(SAMD9L):c.3893G>A (p.Arg1298His) rs1010548594 0.00002
NM_152703.5(SAMD9L):c.1061C>T (p.Ala354Val) rs912280663 0.00001
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) rs1584279870 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152703.5(SAMD9L):c.748G>T (p.Val250Phe) rs1451330701 0.00001
NM_017654.4(SAMD9):c.2708A>C (p.Asn903Thr)
NM_152703.5(SAMD9L):c.-779+181T>C rs1792903463
NM_152703.5(SAMD9L):c.1120del (p.Leu373_Val374insTer)
NM_152703.5(SAMD9L):c.1193_1194insTAAACCTCTCCTATGAGA (p.Leu398_Val399insLysProLeuLeuTer) rs1792339875
NM_152703.5(SAMD9L):c.1324G>C (p.Ala442Pro)
NM_152703.5(SAMD9L):c.1679T>G (p.Leu560Arg)
NM_152703.5(SAMD9L):c.1766G>A (p.Arg589Gln)
NM_152703.5(SAMD9L):c.1789A>G (p.Arg597Gly)
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152703.5(SAMD9L):c.227A>G (p.Asn76Ser) rs1792419152
NM_152703.5(SAMD9L):c.2495del (p.Thr832fs)
NM_152703.5(SAMD9L):c.2519T>A (p.Met840Lys)
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr) rs1554341277
NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala) rs1792213890
NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser) rs1554341158
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152703.5(SAMD9L):c.3066del (p.Phe1021_Tyr1022insTer) rs2116482762
NM_152703.5(SAMD9L):c.308dup (p.Asn103fs) rs758545647
NM_152703.5(SAMD9L):c.3103G>C (p.Val1035Leu)
NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu) rs1792194225
NM_152703.5(SAMD9L):c.3229C>T (p.Arg1077Ter) rs373868315
NM_152703.5(SAMD9L):c.3260C>T (p.Ala1087Val)
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.3374A>G (p.Gln1125Arg)
NM_152703.5(SAMD9L):c.3457C>A (p.Leu1153Ile)
NM_152703.5(SAMD9L):c.3467C>A (p.Ala1156Glu)
NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser) rs1477737151
NM_152703.5(SAMD9L):c.3563G>A (p.Arg1188Gln)
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152703.5(SAMD9L):c.3892C>G (p.Arg1298Gly) rs368520824
NM_152703.5(SAMD9L):c.3899T>G (p.Phe1300Cys) rs2116474947
NM_152703.5(SAMD9L):c.3965T>A (p.Leu1322Ter) rs1584271706
NM_152703.5(SAMD9L):c.4140dup (p.Gln1381fs) rs745823605
NM_152703.5(SAMD9L):c.4144A>G (p.Asn1382Asp)
NM_152703.5(SAMD9L):c.4148C>T (p.Ser1383Phe)
NM_152703.5(SAMD9L):c.4547dup (p.Asn1516fs)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr) rs1433514195
NM_152703.5(SAMD9L):c.901G>C (p.Asp301His)
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]

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