ClinVar Miner

List of variants in gene PROM1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) rs144688616 0.00019
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe) rs201706973 0.00004
NM_006017.3(PROM1):c.1003-6T>G rs398124215 0.00003
NM_006017.3(PROM1):c.97A>G (p.Asn33Asp) rs761208782 0.00001
NM_006017.3(PROM1):c.1030A>G (p.Asn344Asp) rs201244531
NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) rs398124216
NM_006017.3(PROM1):c.2374-6delinsCC rs398124217
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006017.3(PROM1):c.96G>T (p.Trp32Cys) rs794726926

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