List of variants reported as pathogenic for acquired aplastic anemia by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 83

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_001083116.3(PRF1):c.50del (p.Leu17fs)	rs147035858	0.00100
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)	rs747380397	0.00013
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	rs768849283	0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	rs147462227	0.00007
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	rs751247865	0.00006
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	rs104894176	0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	rs189650890	0.00003
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)	rs751161742	0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)	rs200430442	0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs)	rs777345151	0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	rs587782545	0.00002
NM_016038.4(SBDS):c.258+1G>C	rs113993992	0.00002
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)	rs752858869	0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)	rs771552960	0.00001
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg)	rs578092914	0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)	rs776571416	0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	rs28933973	0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)	rs771076819	0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)	rs902124045	0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	rs767215758	0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs)	rs587781891	0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	rs730881857	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)	rs786205135	0.00001
NM_016038.4(SBDS):c.13del (p.Thr5fs)	rs772797192	0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	rs113993998	0.00001
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter)	rs760379846
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)	rs1361687182
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)	rs193302876
NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1451del (p.Asp484fs)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)	rs774071705
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)	rs104894180
NM_001083116.3(PRF1):c.207del (p.Asp70fs)	rs786205093
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg)	rs776571416
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)	rs745902829
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)
NM_002485.5(NBN):c.105_135del (p.Ile35fs)	rs730881840
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)	rs748513310
NM_002485.5(NBN):c.1397+1del	rs1060503467
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)	rs587782130
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	rs1810540992
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs)	rs766044684
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	rs786201745
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474
NM_002485.5(NBN):c.589dup (p.Tyr197fs)	rs1586088924
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	rs587780100
NM_002485.5(NBN):c.817dup (p.Thr273fs)	rs730881839
NM_002485.5(NBN):c.836_839del (p.Gln279fs)	rs864309668
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)	rs748453607
NM_002485.5(NBN):c.974del (p.Pro325fs)	rs1554562110
NM_002485.5(NBN):c.995-2A>G	rs876659521
NM_016038.4(SBDS):c.107del (p.Val36fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs)	rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs)	rs1584439050
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	rs113993994
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)

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.