List of variants reported as pathogenic for Child syndrome by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	rs104894909
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser)	rs137853862
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	rs104894901

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