List of variants in gene combination HBA-LCR, NPRL3 reported as likely pathogenic for brain disorder

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001077350.3(NPRL3):c.1162-2A>G	rs756257487	0.00005
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	rs886037961	0.00001
NM_001077350.3(NPRL3):c.1031+2_1031+3del	rs2141909104
NM_001077350.3(NPRL3):c.1161+1G>A
NM_001077350.3(NPRL3):c.118+1G>A
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001077350.3(NPRL3):c.119-1G>C	rs2141981312
NM_001077350.3(NPRL3):c.119-2A>G	rs1361784389
NM_001077350.3(NPRL3):c.1217_1351+24delinsC	rs2141901872
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)	rs1288771812
NM_001077350.3(NPRL3):c.1352-10_1368del
NM_001077350.3(NPRL3):c.1544+1del	rs1898611246
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)	rs1199226176
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)	rs1596528731
NM_001077350.3(NPRL3):c.319-1G>A
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)	rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)	rs1899872500
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)	rs1596522356
NM_001077350.3(NPRL3):c.547+1G>A	rs1899864955
NM_001077350.3(NPRL3):c.547+1G>C	rs1899864955
NM_001077350.3(NPRL3):c.547+2T>A
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.591_629+634del	rs1899713412
NM_001077350.3(NPRL3):c.629+1G>A	rs2141946055
NM_001077350.3(NPRL3):c.629+1G>T	rs2141946055
NM_001077350.3(NPRL3):c.630-1G>A	rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)	rs746975723
NM_001077350.3(NPRL3):c.925-1G>C	rs1898844907
NM_001077350.3(NPRL3):c.925-2A>G	rs1431914212
NM_001077350.3(NPRL3):c.925-2A>T	rs1431914212
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	rs1898841618

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