ClinVar Miner

List of variants in gene KCNN3 reported as uncertain significance for Zimmermann-Laband syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002249.6(KCNN3):c.1259G>A (p.Arg420Gln)
NM_002249.6(KCNN3):c.1343G>A (p.Arg448His) rs777143484
NM_002249.6(KCNN3):c.1701+3059C>T rs1700385787
NM_002249.6(KCNN3):c.2059C>T (p.Gln687Ter)
NM_002249.6(KCNN3):c.2080G>A (p.Glu694Lys) rs2101754269
NM_002249.6(KCNN3):c.504C>A (p.Asn168Lys) rs764576115
NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)
NM_002249.6(KCNN3):c.682C>T (p.His228Tyr)

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