ClinVar Miner

List of variants in gene NSDHL studied for CK syndrome

Included ClinVar conditions (2):
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Gene type:
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Total variants: 23
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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.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln) rs200748828 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_015922.3(NSDHL):c.1010A>G (p.Tyr337Cys)
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833

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