List of variants in gene UNC13D reported as pathogenic for Familial hemophagocytic lymphohistiocytosis

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)	rs750811263	0.00001
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)	rs768171054
NM_199242.3(UNC13D):c.1244_1245del (p.Ser415fs)
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)	rs754621494
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)	rs764196809
NM_199242.3(UNC13D):c.2448-13G>A	rs753762300
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)	rs1232542382
NM_199242.3(UNC13D):c.708del (p.Asp236fs)	rs2545985543

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