ClinVar Miner

List of variants in gene TASP1 studied for Suleiman-El-Hattab syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017714.3(TASP1):c.977A>G (p.Lys326Arg) rs141344120 0.00106
NM_017714.3(TASP1):c.199C>T (p.Arg67Ter) rs1200336864
NM_017714.3(TASP1):c.360G>T (p.Met120Ile) rs2147255774
NM_017714.3(TASP1):c.404-2A>G
NM_017714.3(TASP1):c.508G>A (p.Ala170Thr)
NM_017714.3(TASP1):c.675+1G>T
NM_017714.3(TASP1):c.701C>T (p.Thr234Met) rs904200599
NM_017714.3(TASP1):c.875-10G>A

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