ClinVar Miner

List of variants in gene UNC13D reported as likely pathogenic for lymphoid system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.322-2A>T rs752651197 0.00002
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.520C>T (p.Gln174Ter) rs1157287613 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
NC_000017.11:g.75834356_75834365delinsTCGGACAAGGTA rs1567818219
NM_199242.3(UNC13D):c.117+1G>A
NM_199242.3(UNC13D):c.1173+1G>A
NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)
NM_199242.3(UNC13D):c.118-2A>G
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)
NM_199242.3(UNC13D):c.1298+2T>C
NM_199242.3(UNC13D):c.1299-1G>A rs1555601863
NM_199242.3(UNC13D):c.1523_1524dup (p.Trp509fs)
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.2625+1G>A
NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)
NM_199242.3(UNC13D):c.2955-1G>A rs1041960684
NM_199242.3(UNC13D):c.3006del (p.Val1003fs) rs2143861305
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.3152-2A>C
NM_199242.3(UNC13D):c.321+1_321+2del rs2064960126
NM_199242.3(UNC13D):c.321+2T>G
NM_199242.3(UNC13D):c.3225dup (p.His1076fs)
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)
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.766C>T (p.Arg256Ter) rs121434352
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
NM_199242.3(UNC13D):c.859-1G>C rs1388957809
NM_199242.3(UNC13D):c.952-2A>G

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