ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 0.00001
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001032.5(RPS29):c.163-4del rs373877728

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