ClinVar Miner

List of variants in gene combination FXYD2, FXYD6-FXYD2 studied for FXYD2-related disorder

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001680.5(FXYD2):c.*6G>T rs180728680 0.00094
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser) rs146614981 0.00083
NM_001680.5(FXYD2):c.75C>T (p.Thr25=) rs145863486 0.00064
NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp) rs138991613 0.00053
NM_001680.5(FXYD2):c.*6+1G>C rs371153018 0.00012
NM_001680.5(FXYD2):c.26-5C>T rs182462094 0.00002

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