ClinVar Miner

List of variants in gene DIAPH3 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_001042517.2(DIAPH3):c.627-20G>A rs2762134 0.75789
NM_001042517.2(DIAPH3):c.1014+27G>C rs339540 0.56368
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583

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