ClinVar Miner

List of variants in gene CYBB reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.855G>A (p.Leu285=) rs782293433 0.00018
NM_000397.4(CYBB):c.483+978G>A rs1031189017 0.00015
NM_000397.4(CYBB):c.1340A>T (p.Asp447Val) rs781944350 0.00007
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) rs201356986 0.00007
NM_000397.4(CYBB):c.948G>T (p.Gly316=) rs139761069 0.00005
NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr) rs782094658 0.00002
NM_000397.4(CYBB):c.1427A>G (p.Tyr476Cys) rs782358158 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.674+1081G>A rs1479015615 0.00002
NM_000397.4(CYBB):c.10T>A (p.Trp4Arg) rs782495755 0.00001
NM_000397.4(CYBB):c.141+7A>T rs781828311 0.00001
NM_000397.4(CYBB):c.1462-7C>A rs371707791 0.00001
NM_000397.4(CYBB):c.1617T>C (p.Pro539=) rs187038548 0.00001
NM_000397.4(CYBB):c.542T>C (p.Val181Ala) rs1929299081 0.00001
NM_000397.4(CYBB):c.698C>T (p.Ala233Val) rs782174347 0.00001
NM_000397.4(CYBB):c.8A>C (p.Asn3Thr) rs782014879 0.00001
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.216T>C (p.Cys72=) rs782202693
NM_000397.4(CYBB):c.328C>T (p.Leu110Phe) rs1929209834
NM_000397.4(CYBB):c.336T>C (p.Ser112=) rs1447228298

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