List of variants in gene KLHL7 reported as uncertain significance for amino acid metabolism disease

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_001031710.3(KLHL7):c.-145C>T	rs545540476	0.00067
NM_001031710.3(KLHL7):c.*24T>C	rs373590982	0.00028
NM_001031710.3(KLHL7):c.*762G>A	rs531449074	0.00026
NM_001031710.3(KLHL7):c.*865C>T	rs193202664	0.00026
NM_001031710.3(KLHL7):c.*325G>A	rs567516489	0.00021
NM_001031710.3(KLHL7):c.*795G>A	rs534737488	0.00016
NM_001031710.3(KLHL7):c.738G>A (p.Thr246=)	rs148401327	0.00012
NM_001031710.3(KLHL7):c.*471T>C	rs768616761	0.00009
NM_001031710.3(KLHL7):c.-215T>A	rs886062216	0.00007
NM_001031710.3(KLHL7):c.513G>A (p.Gln171=)	rs750816527	0.00007
NM_001031710.3(KLHL7):c.*36A>C	rs747687873	0.00004
NM_001031710.3(KLHL7):c.*376G>A	rs556366574	0.00004
NM_001031710.3(KLHL7):c.*232A>G	rs886062219	0.00003
NM_001031710.2(KLHL7):c.-271C>T	rs886062215	0.00001
NM_001031710.3(KLHL7):c.*392G>T	rs1230711606	0.00001
NM_001031710.3(KLHL7):c.*809C>G	rs1314740850	0.00001
NM_001031710.3(KLHL7):c.*913T>C	rs886062220	0.00001
NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=)	rs770570364	0.00001
NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)	rs150640353	0.00001
NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala)	rs761755398	0.00001
NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=)	rs144156217	0.00001
NM_001031710.3(KLHL7):c.318-7T>C	rs886062217	0.00001
NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly)	rs369829959	0.00001
NM_001031710.3(KLHL7):c.618+10T>C	rs1248148456	0.00001
NM_001031710.3(KLHL7):c.*201G>A	rs781364081
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)	rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)	rs1182983579
NM_001031710.3(KLHL7):c.451G>T (p.Val151Leu)	rs1784155928
NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter)	rs1562571985

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