List of variants in gene NSDHL studied for CK syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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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.693GAA[1] (p.Lys232del)	rs121909833

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