List of variants in gene TSPEAR studied for ectodermal dysplasia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	rs138480801	0.00244
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=)	rs150444121	0.00076
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00027
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)	rs369010851	0.00013
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	rs201663789	0.00012
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln)	rs781994662	0.00010
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)	rs782056388	0.00006
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.1178del (p.Pro393fs)
NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.1882G>A (p.Ala628Thr)
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser)	rs138031432
NM_144991.3(TSPEAR):c.42_51dup (p.His18fs)	rs1467180870
NM_144991.3(TSPEAR):c.48del (p.Gly17fs)
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter)	rs966162330

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