List of variants in gene PKLR reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1269+43T>C	rs8177982	0.00718
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)	rs8177988	0.00414
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)	rs147689373	0.00269
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)	rs147659527	0.00163
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)	rs61755431	0.00119
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)	rs201406712	0.00041
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)	rs150077703	0.00040
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)	rs139002629	0.00030
NM_000298.6(PKLR):c.507G>A (p.Gly169=)	rs201674983	0.00021
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)	rs200133000	0.00013
NM_000298.6(PKLR):c.1619-3C>A	rs777609966	0.00003
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)	rs369183199	0.00002
NM_000298.6(PKLR):c.341T>C (p.Ile114Thr)	rs779517988	0.00002
NM_000298.6(PKLR):c.86T>C (p.Ile29Thr)	rs142735355	0.00002
NM_000298.6(PKLR):c.292T>A (p.Ser98Thr)	rs1302535902	0.00001
NM_000298.6(PKLR):c.638T>C (p.Val213Ala)	rs200979497	0.00001
NM_000298.6(PKLR):c.100+407G>T	rs746180822
NM_000298.6(PKLR):c.1049T>C (p.Phe350Ser)	rs755934816
NM_000298.6(PKLR):c.1116G>A (p.Gln372=)	rs2148203939
NM_000298.6(PKLR):c.119G>A (p.Arg40Gln)
NM_000298.6(PKLR):c.1270-11G>A	rs1647339680
NM_000298.6(PKLR):c.1270-15T>G	rs778487109
NM_000298.6(PKLR):c.1272T>G (p.Ile424Met)	rs1647338688
NM_000298.6(PKLR):c.1345C>T (p.Arg449Cys)
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)	rs752034960
NM_000298.6(PKLR):c.1388C>T (p.Ala463Val)	rs1647321523
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)	rs1674489086
NM_000298.6(PKLR):c.20T>C (p.Ile7Thr)
NM_000298.6(PKLR):c.247G>A (p.Val83Met)
NM_000298.6(PKLR):c.302T>C (p.Val101Ala)	rs1572057758
NM_000298.6(PKLR):c.379C>G (p.His127Asp)	rs1572057427
NM_000298.6(PKLR):c.380A>G (p.His127Arg)	rs1572057410
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)	rs199824528
NM_000298.6(PKLR):c.694+41G>T
NM_000298.6(PKLR):c.762G>C (p.Leu254Phe)	rs943436402

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