ClinVar Miner

List of variants studied for Hirsutism; Intellectual disability

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.27del (p.Pro11fs) rs758791658
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001374828.1(ARID1B):c.578_589del (p.Leu193_Phe196del) rs1778806787
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804

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