ClinVar Miner

List of variants in gene IQCG, RPL35A studied for Diamond-Blackfan anemia

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000996.4(RPL35A):c.*14C>A rs10022 0.00200
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
NM_000996.4(RPL35A):c.165-16_166del
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.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)

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