ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 51

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys) rs528223406 0.00019
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp) rs758252808
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) rs755441595
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308

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