ClinVar Miner

List of variants in gene DIAPH1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=) rs748159908
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile) rs1562282214

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