ClinVar Miner

List of variants in gene KCNK9 reported as uncertain significance for Birk-Barel syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser) rs1563758595
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys) rs1814690517
NM_001282534.2(KCNK9):c.467T>C (p.Met156Thr) rs1814686433
NM_001282534.2(KCNK9):c.599T>C (p.Ile200Thr) rs1814681920
NM_001282534.2(KCNK9):c.932C>A (p.Ser311Ter) rs767838359
NM_001282534.2(KCNK9):c.973C>A (p.His325Asn)

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