List of variants in gene UNC13D reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.322-2A>T	rs752651197	0.00002
NM_199242.3(UNC13D):c.2447+2T>C	rs1471901138	0.00001
NM_199242.3(UNC13D):c.569+5G>A	rs765034513	0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)	rs747169857	0.00001
NC_000017.11:g.75834356_75834365delinsTCGGACAAGGTA	rs1567818219
NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)
NM_199242.3(UNC13D):c.118-2A>G
NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)
NM_199242.3(UNC13D):c.1523_1524dup (p.Trp509fs)
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)	rs755348845
NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs)	rs1048876742
NM_199242.3(UNC13D):c.3152-2A>C
NM_199242.3(UNC13D):c.3225dup (p.His1076fs)
NM_199242.3(UNC13D):c.783C>G (p.Tyr261Ter)
NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)
NM_199242.3(UNC13D):c.858+1G>A

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