ClinVar Miner

List of variants reported as uncertain significance for anemia by Ambry Genetics

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.*1A>G rs11540833 0.00126
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_000975.5(RPL11):c.396+3A>G
NM_000975.5(RPL11):c.508-3C>G
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)
NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)
NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
NM_001022.4(RPS19):c.411+16G>C
NM_001022.4(RPS19):c.72-9T>A
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)

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