List of variants in gene NECTIN4 reported as pathogenic for ectodermal dysplasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)	rs267606991	0.00001
NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)	rs1085307125
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)	rs1571153052
NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)	rs267606992
NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)	rs387907014
NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)	rs1085307124
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)	rs1653335301
NM_030916.3(NECTIN4):c.906del (p.Pro304fs)	rs730880260

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