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

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)	rs200373703	0.00003
NM_015087.5(SPART):c.1110del (p.Lys370fs)	rs1060499524
NM_015087.5(SPART):c.1294del (p.Ser432fs)	rs2137335988
NM_015087.5(SPART):c.1450dup (p.Thr484fs)	rs730882198
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)	rs777288668
NM_015087.5(SPART):c.894_898del (p.Met299fs)	rs2137515973
NM_015087.5(SPART):c.988A>G (p.Met330Val)	rs1399213398

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