ClinVar Miner

List of variants in gene PROM1 reported as uncertain significance for Retinal dystrophy

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_006017.3(PROM1):c.572G>A (p.Arg191Gln) rs753389458 0.00009
NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) rs199533391 0.00008
NM_006017.3(PROM1):c.1927G>A (p.Ala643Thr) rs748475864 0.00006
NM_006017.3(PROM1):c.2095G>A (p.Val699Ile) rs1271770492 0.00006
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006017.3(PROM1):c.124G>A (p.Glu42Lys) rs762631402 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.694+4A>T rs375952708 0.00002
NM_006017.3(PROM1):c.1002+6C>T rs1338456600 0.00001
NM_006017.3(PROM1):c.1141+1G>A rs878853401 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006017.3(PROM1):c.1616A>T (p.Glu539Val) rs866140263 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.2062A>G (p.Ile688Val) rs760554830 0.00001
NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) rs369831677 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) rs1369542308
NM_006017.3(PROM1):c.1141+5G>C rs878853402
NM_006017.3(PROM1):c.1215A>G (p.Ile405Met)
NM_006017.3(PROM1):c.1259T>C (p.Ile420Thr)
NM_006017.3(PROM1):c.1363G>C (p.Gly455Arg)
NM_006017.3(PROM1):c.1407G>T (p.Pro469=)
NM_006017.3(PROM1):c.1438G>A (p.Gly480Ser)
NM_006017.3(PROM1):c.1545C>T (p.Ile515=)
NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly) rs201870277
NM_006017.3(PROM1):c.1745G>T (p.Ser582Ile)
NM_006017.3(PROM1):c.1768-4G>T rs766013910
NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr)
NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) rs775321230
NM_006017.3(PROM1):c.2189A>G (p.Asn730Ser)
NM_006017.3(PROM1):c.2357A>G (p.Tyr786Cys)
NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe) rs1717540258
NM_006017.3(PROM1):c.2464A>G (p.Met822Val)
NM_006017.3(PROM1):c.2479G>A (p.Val827Met) rs866191488
NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu)
NM_006017.3(PROM1):c.53T>C (p.Phe18Ser) rs1743853305
NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) rs1730955261
NM_006017.3(PROM1):c.631-2A>C
NM_006017.3(PROM1):c.663T>C (p.Thr221=)
NM_006017.3(PROM1):c.676G>A (p.Ala226Thr)
NM_006017.3(PROM1):c.694+1G>A rs878853399
NM_006017.3(PROM1):c.695-6A>G rs898988422
NM_006017.3(PROM1):c.718G>T (p.Gly240Ter)
NM_006017.3(PROM1):c.719G>T (p.Gly240Val)
NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) rs148242593
NM_006017.3(PROM1):c.893T>A (p.Leu298Gln)
NM_006017.3(PROM1):c.910G>A (p.Asp304Asn)

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