ClinVar Miner

List of variants reported as benign for amelogenesis imperfecta type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.53A>C (p.Lys18Thr) rs2245803 0.64460
NM_004771.4(MMP20):c.824T>C (p.Val275Ala) rs1784423 0.39994
NM_004771.4(MMP20):c.842C>A (p.Thr281Asn) rs1784424 0.39948
NM_004771.4(MMP20):c.810C>T (p.Tyr270=) rs11225343 0.02179
NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln) rs35258188 0.01531
NM_182758.4(WDR72):c.*2081C>T rs74015391 0.01510
NM_004771.4(MMP20):c.505A>C (p.Ile169Leu) rs17099008 0.00801
NM_182758.4(WDR72):c.*3225T>G rs137867992 0.00044
NM_004771.4(MMP20):c.*227A>C rs12278482
NM_182758.4(WDR72):c.*3423A>C rs74015386

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