ClinVar Miner

List of variants studied for Temtamy preaxial brachydactyly syndrome by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315

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