List of variants in gene SPART reported as likely pathogenic for Troyer syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015087.5(SPART):c.1643-2A>G	rs771101723	0.00001
NM_015087.5(SPART):c.1324G>C (p.Ala442Pro)
NM_015087.5(SPART):c.1738G>T (p.Gly580Ter)
NM_015087.5(SPART):c.592G>T (p.Gly198Ter)	rs2137548824
NM_015087.5(SPART):c.696dup (p.Val233fs)	rs770560051

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