ClinVar Miner

List of variants reported as benign for Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002049.4(GATA1):c.1173G>A (p.Thr391=) rs61735969 0.00256
NM_002049.4(GATA1):c.201G>A (p.Glu67=) rs61753429 0.00109
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu) rs372131208 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_002049.4(GATA1):c.158C>A (p.Ala53Asp) rs142614402 0.00028
NM_002049.4(GATA1):c.942A>G (p.Lys314=) rs150473615 0.00018
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr) rs150572851 0.00016
NM_002049.4(GATA1):c.871-7T>C rs371752832 0.00016
NM_002049.4(GATA1):c.1045G>A (p.Val349Met) rs199710067 0.00014
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro) rs782120820 0.00009
NM_002049.4(GATA1):c.361G>A (p.Val121Met) rs200509606 0.00009
NM_002049.4(GATA1):c.295G>A (p.Gly99Ser) rs184815507 0.00006
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) rs140561920 0.00006
NM_002049.4(GATA1):c.678C>T (p.Asn226=) rs370522986 0.00006
NM_002049.4(GATA1):c.744+5G>A rs376546932 0.00006
NM_002049.4(GATA1):c.1230G>A (p.Pro410=) rs201176390 0.00005
NM_002049.4(GATA1):c.594C>A (p.Pro198=) rs369844571 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp) rs202091014 0.00004
NM_002049.4(GATA1):c.479A>G (p.Asn160Ser) rs59609788 0.00003
NM_002049.4(GATA1):c.600G>A (p.Glu200=) rs781977639 0.00003
NM_002049.4(GATA1):c.663C>G (p.Gly221=) rs782282009 0.00003
NM_002049.4(GATA1):c.745-9G>A rs371005242 0.00003
NM_002049.4(GATA1):c.1170C>G (p.Pro390=) rs782167312 0.00002
NM_002049.4(GATA1):c.1176C>G (p.Gly392=) rs782094568 0.00002
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile) rs782599587 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002049.4(GATA1):c.173C>T (p.Ala58Val) rs782299679 0.00001
NM_002049.4(GATA1):c.598+3G>A rs782536159 0.00001
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr) rs782188059 0.00001
NM_002049.4(GATA1):c.1111G>A (p.Val371Met)
NM_002049.4(GATA1):c.1218T>C (p.Thr406=)
NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg)
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)
NM_002049.4(GATA1):c.212A>C (p.His71Pro) rs374300356
NM_002049.4(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.4(GATA1):c.221-20T>A
NM_002049.4(GATA1):c.338G>A (p.Arg113His)
NM_002049.4(GATA1):c.339C>T (p.Arg113=)
NM_002049.4(GATA1):c.432C>T (p.Asp144=)
NM_002049.4(GATA1):c.599-16_599-14del rs782736246
NM_002049.4(GATA1):c.65C>G (p.Ala22Gly)
NM_002049.4(GATA1):c.871-20C>T
NM_002049.4(GATA1):c.93G>T (p.Gly31=) rs368193049
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)

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.