ClinVar Miner

List of variants in gene combination KCNK4, KCNK4-CATSPERZ reported as benign by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_033310.3(KCNK4):c.843G>A (p.Thr281=) rs2232417 0.85176
NM_033310.3(KCNK4):c.983C>T (p.Pro328Leu) rs953778 0.18794
NM_033310.3(KCNK4):c.24C>T (p.Ala8=) rs76192175 0.00391
NM_033310.3(KCNK4):c.801+13G>A rs186247639 0.00063
NM_033310.3(KCNK4):c.738C>T (p.Phe246=) rs145581707 0.00007
NM_033310.3(KCNK4):c.314-12C>T rs199639001 0.00006

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