List of variants in gene BRAT1 reported as pathogenic for Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	rs776913277	0.00022
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)	rs749240175	0.00004
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	rs200502048	0.00002
NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)	rs886039312	0.00001
NM_152743.4(BRAT1):c.803+1G>C	rs869312931	0.00001
NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter)	rs1778980785
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)	rs763527391
NM_152743.4(BRAT1):c.2334_2335del (p.Leu779fs)	rs1778831733
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	rs1085307958
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)	rs727505362
NM_152743.4(BRAT1):c.457C>T (p.Gln153Ter)
NM_152743.4(BRAT1):c.638dup (p.Val214fs)	rs730880324

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