ClinVar Miner

List of variants reported as uncertain significance for anemia by Dunham Lab, University of Washington

Included ClinVar conditions (292):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001360016.2(G6PD):c.*357G>A
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) rs1057518975
NM_001360016.2(G6PD):c.1312G>A (p.Glu438Lys)
NM_001360016.2(G6PD):c.1316G>A (p.Arg439His)
NM_001360016.2(G6PD):c.173A>G (p.Asp58Gly)
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
NM_001360016.2(G6PD):c.751G>A (p.Asp251Asn)
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
NM_001360016.2(G6PD):c.[202G>A;563C>T]
NM_001360016.2(G6PD):c.[311G>A;376A>G]
NM_001360016.2(G6PD):c.[376A>G;563C>T]

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