ClinVar Miner

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

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
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.1077+6C>G rs146390632 0.00014
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
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.1077+1G>C rs745495162
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) rs398124216
NM_006017.3(PROM1):c.2374-5dup rs34269395
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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