List of variants in gene UNC13D studied for Familial hemophagocytic lymphohistiocytosis

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Gene type: Distinguish antisense genes from sense genes
		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.520C>T (p.Gln174Ter)	rs1157287613	0.00001
NM_199242.3(UNC13D):c.1596+15C>G	rs574478720
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	rs377293829
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)	rs754621494
NM_199242.3(UNC13D):c.2448-13G>A	rs753762300
NM_199242.3(UNC13D):c.2448-8dup	rs3217698
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)

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