List of variants in gene TSPEAR reported as pathogenic for ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	rs138480801	0.00230
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00026
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	rs201663789	0.00012
NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn)	rs781868760	0.00002
NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter)	rs782552484	0.00001
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter)	rs966162330	0.00001
NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)	rs782056388
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)	rs782084367
NM_144991.3(TSPEAR):c.42_51dup (p.His18fs)	rs1467180870
NM_144991.3(TSPEAR):c.48del (p.Gly17fs)	rs1253114701

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