ClinVar Miner

List of variants in gene PKLR reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00658
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00147
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00114
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000298.6(PKLR):c.217C>T (p.Leu73Phe) rs200791251 0.00004
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000298.6(PKLR):c.1528C>T (p.Arg510Ter) rs1331742633 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.1116+23T>G rs777806779 0.00001
NM_000298.6(PKLR):c.1235A>C (p.Asn412Thr) rs774006353 0.00001
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000298.6(PKLR):c.256C>G (p.Arg86Gly) rs752391774 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000298.6(PKLR):c.38G>A (p.Arg13Gln) rs769174570 0.00001
NM_000298.6(PKLR):c.638T>C (p.Val213Ala) rs200979497 0.00001
NM_000298.6(PKLR):c.*13_*14delinsCA rs2148195441
NM_000298.6(PKLR):c.1168G>A (p.Asp390Asn) rs147034239
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.118C>T (p.Arg40Trp)
NM_000298.6(PKLR):c.1270-22A>T rs2148202138
NM_000298.6(PKLR):c.1270-2A>C
NM_000298.6(PKLR):c.1270-7C>T rs777145975
NM_000298.6(PKLR):c.1327C>T (p.Arg443Trp) rs1326895470
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1654G>A (p.Val552Met) rs370316462
NM_000298.6(PKLR):c.1676G>C (p.Arg559Pro) rs1456158956
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.826del (p.Val276fs) rs754939638
NM_000298.6(PKLR):c.844A>T (p.Ile282Phe) rs2525290670
NM_000298.6(PKLR):c.957del (p.Gly319_Val320insTer) rs2148204773
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691

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