ClinVar Miner

List of variants in gene KLHL15 studied for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_030624.3(KLHL15):c.820C>T (p.Arg274Cys) rs1195344747 0.00001
NC_000023.10:g.24020361_24042839del
NM_030624.3(KLHL15):c.1179del (p.Tyr394fs) rs1929024034
NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)
NM_030624.3(KLHL15):c.217C>G (p.His73Asp) rs1929447820
NM_030624.3(KLHL15):c.26G>A (p.Cys9Tyr) rs1929450178
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys) rs1602008532
NM_030624.3(KLHL15):c.710A>T (p.Lys237Met) rs1929031015
NM_030624.3(KLHL15):c.91C>T (p.Leu31Phe)

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