ClinVar Miner

List of variants in gene PROM1 reported as uncertain significance by GeneDx

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Total variants: 16
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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.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser) rs1721701534 0.00001
NM_006017.3(PROM1):c.1494G>C (p.Met498Ile)
NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr) rs1723517670
NM_006017.3(PROM1):c.599A>G (p.Asp200Gly) rs765051915
NM_006017.3(PROM1):c.695G>T (p.Ser232Ile) rs370143425
NM_006017.3(PROM1):c.818T>A (p.Met273Lys) rs752090916
NM_006017.3(PROM1):c.958A>G (p.Arg320Gly) rs1043647793

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