ClinVar Miner

List of variants in gene THAP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp) rs140694378 0.00008
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018105.3(THAP1):c.36C>T (p.Asn12=) rs1327871725 0.00001
NM_018105.3(THAP1):c.365C>T (p.Pro122Leu) rs1554599600

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