List of variants in gene KLHL7 reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)	rs746612410	0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	rs780705654	0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)	rs77078070	0.00001
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs)	rs879255557
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln)	rs879255558
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser)	rs879255556
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)	rs1554286093
NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)	rs137853112
NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr)	rs137853114
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	rs137853113
NM_001031710.3(KLHL7):c.618+1G>A	rs1554289078

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