ClinVar Miner

List of variants in gene SRP72 studied for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*1241C>T
NM_006947.4(SRP72):c.*125GT[1] rs886059498
NM_006947.4(SRP72):c.*1313C>G rs113719942
NM_006947.4(SRP72):c.*1385A>G
NM_006947.4(SRP72):c.*139G>A rs28438730
NM_006947.4(SRP72):c.*142A>G
NM_006947.4(SRP72):c.*1478C>A
NM_006947.4(SRP72):c.*1483A>G
NM_006947.4(SRP72):c.*1603A>G rs1142851
NM_006947.4(SRP72):c.*1678C>T rs886059503
NM_006947.4(SRP72):c.*173T>C rs10051
NM_006947.4(SRP72):c.*1764A>G rs192226722
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*194G>A rs188713088
NM_006947.4(SRP72):c.*221A>G rs149250989
NM_006947.4(SRP72):c.*227G>A rs879875987
NM_006947.4(SRP72):c.*24G>A rs144710632
NM_006947.4(SRP72):c.*321A>G rs886059499
NM_006947.4(SRP72):c.*386G>A rs4260596
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*442A>G rs7762
NM_006947.4(SRP72):c.*473G>A
NM_006947.4(SRP72):c.*505C>T
NM_006947.4(SRP72):c.*558T>C rs568178342
NM_006947.4(SRP72):c.*606A>T rs868279024
NM_006947.4(SRP72):c.*606AT[10] rs201131530
NM_006947.4(SRP72):c.*622G>A
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.*624A>G
NM_006947.4(SRP72):c.*633T>C
NM_006947.4(SRP72):c.*635C>T rs200981113
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.*732A>G rs14211
NM_006947.4(SRP72):c.*780C>T rs10518
NM_006947.4(SRP72):c.*839T>C rs757066668
NM_006947.4(SRP72):c.*972G>A rs189886380
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) rs587776907
NM_006947.4(SRP72):c.110-5T>G
NM_006947.4(SRP72):c.1225-6G>A rs752594366
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
NM_006947.4(SRP72):c.1640+6dup rs572508224
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) rs145347209
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) rs17524437
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) rs139502866
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) rs760960779
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.