ClinVar Miner

List of variants in gene SRP72 studied for anemia

Included ClinVar conditions (280):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40194
NM_006947.4(SRP72):c.*780C>T rs10518 0.35479
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_006947.4(SRP72):c.*173T>C rs10051 0.19449
NM_006947.4(SRP72):c.*732A>G rs14211 0.19317
NM_006947.4(SRP72):c.*1603A>G rs1142851 0.13141
NM_006947.4(SRP72):c.*442A>G rs7762 0.08062
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_006947.4(SRP72):c.*386G>A rs4260596 0.07511
NM_006947.4(SRP72):c.*1313C>G rs113719942 0.06349
NM_006947.4(SRP72):c.*606A>T rs868279024 0.05397
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_006947.4(SRP72):c.*139G>A rs28438730 0.02206
NM_006947.4(SRP72):c.*972G>A rs189886380 0.00692
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109 0.00682
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_006947.4(SRP72):c.*24G>A rs144710632 0.00215
NM_006947.4(SRP72):c.*221A>G rs149250989 0.00152
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_006947.4(SRP72):c.*194G>A rs188713088 0.00073
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) rs145347209 0.00037
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196 0.00035
NM_006947.4(SRP72):c.*505C>T rs562987091 0.00031
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_006947.4(SRP72):c.*624A>G rs867685822 0.00025
NM_006947.4(SRP72):c.*1385A>G rs754461786 0.00022
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299 0.00020
NM_006947.4(SRP72):c.*558T>C rs568178342 0.00018
NM_006947.4(SRP72):c.*635C>T rs200981113 0.00015
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) rs375436807 0.00011
NM_006947.4(SRP72):c.623G>A (p.Arg208His) rs369761160 0.00011
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00010
NM_006947.4(SRP72):c.*839T>C rs757066668 0.00009
NM_006947.4(SRP72):c.*1483A>G rs566533583 0.00008
NM_006947.4(SRP72):c.*321A>G rs886059499 0.00007
NM_006947.4(SRP72):c.*622G>A rs775675334 0.00007
NM_006947.4(SRP72):c.*1241C>T rs1282273094 0.00006
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585 0.00006
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189 0.00004
NM_006947.4(SRP72):c.*1678C>T rs886059503 0.00003
NM_006947.4(SRP72):c.*1764A>G rs192226722 0.00003
NM_006947.4(SRP72):c.*1478C>A rs1405583789 0.00002
NM_006947.4(SRP72):c.1225-6G>A rs752594366 0.00002
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) rs1185247120 0.00002
NM_006947.4(SRP72):c.*227G>A rs879875987 0.00001
NM_006947.4(SRP72):c.*473G>A rs1020026480 0.00001
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714 0.00001
NM_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*125GT[1] rs886059498
NM_006947.4(SRP72):c.*142A>G rs878964615
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*606AT[10] rs201131530
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.*633T>C rs867120149
NM_006947.4(SRP72):c.*637TA[11] rs35852754
NM_006947.4(SRP72):c.*637TA[7] rs35852754
NM_006947.4(SRP72):c.*637TA[9] rs35852754
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) rs587776907
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.1938C>G (p.His646Gln) rs1721270142
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154
NM_006947.4(SRP72):c.574C>G (p.Leu192Val) rs772592244
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro) rs1040868057

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