ClinVar Miner

List of variants in gene combination LOC112533672, UNC13D reported as likely benign for lymphoid system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser) rs147748627 0.00158
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
NM_199242.3(UNC13D):c.2709+6G>T rs199529082 0.00014
NM_199242.3(UNC13D):c.2676C>A (p.Ile892=) rs2064865151 0.00004
NM_199242.3(UNC13D):c.2710-12T>C rs374302602 0.00004
NM_199242.3(UNC13D):c.2954+17C>T rs538544253 0.00004
NM_199242.3(UNC13D):c.2710-17C>T rs368196410 0.00003
NM_199242.3(UNC13D):c.2709+16C>T rs747021679 0.00002
NM_199242.3(UNC13D):c.2799C>T (p.Ser933=) rs752372722 0.00002
NM_199242.3(UNC13D):c.2817C>T (p.Pro939=) rs565976477 0.00002
NM_199242.3(UNC13D):c.2954+13C>T rs772473891 0.00002
NM_199242.3(UNC13D):c.2954+14G>A rs1194495416 0.00002
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=) rs1372708758 0.00001
NM_199242.3(UNC13D):c.2679G>C (p.Arg893=) rs1011534388 0.00001
NM_199242.3(UNC13D):c.2754C>G (p.Ala918=) rs1217118688 0.00001
NM_199242.3(UNC13D):c.2830+14G>A rs750433063 0.00001
NM_199242.3(UNC13D):c.2831-19C>A rs369860531 0.00001
NM_199242.3(UNC13D):c.2862G>A (p.Leu954=) rs777951171 0.00001
NM_199242.3(UNC13D):c.2954+20C>T rs1339152500 0.00001
NM_199242.3(UNC13D):c.2626-12A>C
NM_199242.3(UNC13D):c.2649G>A (p.Leu883=)
NM_199242.3(UNC13D):c.2649G>C (p.Leu883=)
NM_199242.3(UNC13D):c.2655G>A (p.Ala885=)
NM_199242.3(UNC13D):c.2655G>T (p.Ala885=)
NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)
NM_199242.3(UNC13D):c.2688C>T (p.Phe896=)
NM_199242.3(UNC13D):c.2700C>A (p.Ile900=)
NM_199242.3(UNC13D):c.2703G>A (p.Gln901=)
NM_199242.3(UNC13D):c.2709+11T>C
NM_199242.3(UNC13D):c.2709+12C>A
NM_199242.3(UNC13D):c.2709+16C>G rs747021679
NM_199242.3(UNC13D):c.2709+17G>A
NM_199242.3(UNC13D):c.2709+17G>T
NM_199242.3(UNC13D):c.2709+19A>C
NM_199242.3(UNC13D):c.2709+20C>T
NM_199242.3(UNC13D):c.2709+7C>A
NM_199242.3(UNC13D):c.2710-10C>T
NM_199242.3(UNC13D):c.2710-14G>A
NM_199242.3(UNC13D):c.2710-18C>A rs1555600186
NM_199242.3(UNC13D):c.2710-19C>A
NM_199242.3(UNC13D):c.2710-19C>G
NM_199242.3(UNC13D):c.2710-36TGACCCTGC[3]
NM_199242.3(UNC13D):c.2710-4C>T
NM_199242.3(UNC13D):c.2710-5C>G
NM_199242.3(UNC13D):c.2710-9C>A
NM_199242.3(UNC13D):c.2715A>G (p.Glu905=)
NM_199242.3(UNC13D):c.2718C>T (p.Thr906=)
NM_199242.3(UNC13D):c.2730G>A (p.Glu910=)
NM_199242.3(UNC13D):c.2733G>A (p.Leu911=)
NM_199242.3(UNC13D):c.2742G>A (p.Val914=) rs777262533
NM_199242.3(UNC13D):c.2742G>T (p.Val914=)
NM_199242.3(UNC13D):c.2748C>T (p.Val916=) rs2143865000
NM_199242.3(UNC13D):c.2763C>T (p.Arg921=)
NM_199242.3(UNC13D):c.2769T>C (p.Ser923=)
NM_199242.3(UNC13D):c.2779C>T (p.Leu927=)
NM_199242.3(UNC13D):c.2787G>A (p.Val929=)
NM_199242.3(UNC13D):c.2802C>T (p.Ala934=)
NM_199242.3(UNC13D):c.2811G>A (p.Leu937=)
NM_199242.3(UNC13D):c.2811G>C (p.Leu937=)
NM_199242.3(UNC13D):c.2814G>T (p.Leu938=)
NM_199242.3(UNC13D):c.2818C>T (p.Leu940=)
NM_199242.3(UNC13D):c.2830+11G>A
NM_199242.3(UNC13D):c.2830+11G>C
NM_199242.3(UNC13D):c.2830+18T>C rs1372251630
NM_199242.3(UNC13D):c.2830+18T>G
NM_199242.3(UNC13D):c.2831-11C>T
NM_199242.3(UNC13D):c.2831-14C>T
NM_199242.3(UNC13D):c.2831-15C>T rs2143864252
NM_199242.3(UNC13D):c.2831-17C>T
NM_199242.3(UNC13D):c.2831-19C>T rs369860531
NM_199242.3(UNC13D):c.2831-4C>T
NM_199242.3(UNC13D):c.2832C>T (p.Gly944=)
NM_199242.3(UNC13D):c.2838C>T (p.Ser946=)
NM_199242.3(UNC13D):c.2844C>G (p.Pro948=)
NM_199242.3(UNC13D):c.2847T>C (p.Phe949=)
NM_199242.3(UNC13D):c.2854C>T (p.Leu952=)
NM_199242.3(UNC13D):c.2859C>T (p.Thr953=)
NM_199242.3(UNC13D):c.2869A>C (p.Arg957=)
NM_199242.3(UNC13D):c.2871G>A (p.Arg957=)
NM_199242.3(UNC13D):c.2892C>T (p.Ala964=)
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.2910G>A (p.Lys970=)
NM_199242.3(UNC13D):c.2922C>T (p.Asp974=) rs2143863995
NM_199242.3(UNC13D):c.2931A>G (p.Pro977=)
NM_199242.3(UNC13D):c.2932T>C (p.Leu978=)
NM_199242.3(UNC13D):c.2954+7G>T rs1182241695
NM_199242.3(UNC13D):c.2954+8G>C rs1483854859

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