ClinVar Miner

List of variants studied for CK syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln) rs200748828 0.00002
NM_015922.3(NSDHL):c.1010A>G (p.Tyr337Cys)
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
NM_015922.3(NSDHL):c.457G>A (p.Val153Ile)
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833

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