ClinVar Miner

List of variants in gene PROM1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
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.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.2253A>G (p.Glu751=) rs368580524 0.00044
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln) rs201692179 0.00010
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) rs199533391 0.00008
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1301+2T>C rs775957498 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.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006017.3(PROM1):c.533T>C (p.Val178Ala) rs780577834 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.83C>A (p.Ala28Asp) rs200267954 0.00002
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1435G>A (p.Gly479Arg) rs774504919 0.00001
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) rs905919709 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.102T>C (p.Tyr34=)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1136T>C (p.Val379Ala) rs752643119
NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn) rs1346289528
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1455-4C>A rs1577944546
NM_006017.3(PROM1):c.1463_1466delinsC (p.Gly488_Leu489delinsAla) rs2149188387
NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg)
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) rs1295259849
NM_006017.3(PROM1):c.1683-8T>A rs1721723050
NM_006017.3(PROM1):c.1697dup (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006017.3(PROM1):c.2514-4A>G rs1236769724
NM_006017.3(PROM1):c.906C>T (p.Leu302=) rs1578055879

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