List of variants in gene UNC13D reported as likely pathogenic for Familial hemophagocytic lymphohistiocytosis 3

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_199242.3(UNC13D):c.1055+1G>A	rs754205110	0.00001
NM_199242.3(UNC13D):c.1727+1G>A	rs754882266	0.00001
NM_199242.3(UNC13D):c.2447+1G>A	rs1165696705	0.00001
NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro)	rs1278701043	0.00001
NM_199242.3(UNC13D):c.569+5G>A	rs765034513	0.00001
NM_199242.3(UNC13D):c.614+1G>T	rs866629962	0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)	rs747169857	0.00001
NM_199242.3(UNC13D):c.1173+1G>A
NM_199242.3(UNC13D):c.118-307G>A	rs1019391145
NM_199242.3(UNC13D):c.1298+2T>C
NM_199242.3(UNC13D):c.1299-1G>A	rs1555601863
NM_199242.3(UNC13D):c.153+1G>A
NM_199242.3(UNC13D):c.154-1G>T
NM_199242.3(UNC13D):c.1728-2A>C
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)	rs755348845
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	rs377293829
NM_199242.3(UNC13D):c.1848+1G>A
NM_199242.3(UNC13D):c.1848+1G>C
NM_199242.3(UNC13D):c.1848+2_1848+4del
NM_199242.3(UNC13D):c.2447+2T>C
NM_199242.3(UNC13D):c.2448-13G>A	rs753762300
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)	rs1274685768
NM_199242.3(UNC13D):c.258_261+16del
NM_199242.3(UNC13D):c.262-1G>A
NM_199242.3(UNC13D):c.2625+1G>A
NM_199242.3(UNC13D):c.2955-1G>A	rs1041960684
NM_199242.3(UNC13D):c.3006del (p.Val1003fs)	rs2143861305
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs)	rs1048876742
NM_199242.3(UNC13D):c.321+1_321+2del	rs2064960126
NM_199242.3(UNC13D):c.321+2T>G
NM_199242.3(UNC13D):c.498del (p.Glu167fs)	rs1599414759
NM_199242.3(UNC13D):c.570-2A>G
NM_199242.3(UNC13D):c.570-2A>T	rs770325118
NM_199242.3(UNC13D):c.683+1G>A
NM_199242.3(UNC13D):c.859-1G>C	rs1388957809
NM_199242.3(UNC13D):c.952-2A>G

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