ClinVar Miner

List of variants reported as likely pathogenic for anemia by Ambry Genetics

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-9_508-5del
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.165-16_166del
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.411+2_411+6del
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.312+1G>C
NM_001029.5(RPS26):c.313-2A>G
NM_033022.4(RPS24):c.279+5G>T

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