ClinVar Miner

List of variants studied for Amelogenesis imperfecta, hypomaturation type, IIa6

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) rs1057517672
NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) rs1555409827
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) rs1057517671
NM_001177676.2(GPR68):c.975dup (p.Glu326fs)

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