ClinVar Miner

List of variants studied for Diamond-Blackfan anemia by GeneReviews

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189

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