ClinVar Miner

List of variants in gene UNC13D reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His) rs146611729 0.00019
NM_199242.3(UNC13D):c.3269C>T (p.Pro1090Leu) rs751649441 0.00018
NM_199242.3(UNC13D):c.1520G>A (p.Arg507His) rs866295247 0.00012
NM_199242.3(UNC13D):c.2083G>A (p.Ala695Thr) rs145589230 0.00010
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.1928C>T (p.Thr643Ile) rs184046644 0.00007
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_199242.3(UNC13D):c.2384T>C (p.Met795Thr) rs372220517 0.00006
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His) rs751157590 0.00006
NM_199242.3(UNC13D):c.1015G>A (p.Ala339Thr) rs781050501 0.00005
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00005
NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln) rs139155193 0.00005
NM_199242.3(UNC13D):c.280G>A (p.Glu94Lys) rs537781874 0.00004
NM_199242.3(UNC13D):c.3062C>T (p.Pro1021Leu) rs375153464 0.00004
NM_199242.3(UNC13D):c.3194G>A (p.Arg1065Gln) rs373701371 0.00004
NM_199242.3(UNC13D):c.3263C>T (p.Pro1088Leu) rs564329348 0.00004
NM_199242.3(UNC13D):c.1597G>A (p.Val533Met) rs201663917 0.00003
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.2491G>A (p.Glu831Lys) rs774039644 0.00003
NM_199242.3(UNC13D):c.3092C>G (p.Ser1031Cys) rs1336797167 0.00003
NM_199242.3(UNC13D):c.3142G>A (p.Ala1048Thr) rs758781229 0.00003
NM_199242.3(UNC13D):c.713G>A (p.Gly238Asp) rs775232059 0.00003
NM_199242.3(UNC13D):c.1625C>T (p.Thr542Met) rs766409638 0.00002
NM_199242.3(UNC13D):c.1709G>A (p.Arg570His) rs774248632 0.00002
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly) rs762112010 0.00002
NM_199242.3(UNC13D):c.2507A>T (p.Gln836Leu) rs747265361 0.00002
NM_199242.3(UNC13D):c.1051A>G (p.Met351Val) rs764934056 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_199242.3(UNC13D):c.1585C>G (p.Leu529Val) rs557323479 0.00001
NM_199242.3(UNC13D):c.2116G>C (p.Glu706Gln) rs140332182 0.00001
NM_199242.3(UNC13D):c.2197G>A (p.Glu733Lys) rs1469229658 0.00001
NM_199242.3(UNC13D):c.2233C>A (p.Leu745Met) rs774441894 0.00001
NM_199242.3(UNC13D):c.2509C>T (p.Arg837Cys) rs1310341714 0.00001
NM_199242.3(UNC13D):c.286C>T (p.His96Tyr) rs774601988 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_199242.3(UNC13D):c.3149A>G (p.Asn1050Ser) rs754299432 0.00001
NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu) rs2062136435 0.00001
NM_199242.3(UNC13D):c.3181C>T (p.Arg1061Trp) rs1380958280 0.00001
NM_199242.3(UNC13D):c.3182G>A (p.Arg1061Gln) rs79891552 0.00001
NM_199242.3(UNC13D):c.328A>G (p.Ile110Val) rs547919091 0.00001
NM_199242.3(UNC13D):c.389G>A (p.Gly130Glu) rs747840374 0.00001
NM_199242.3(UNC13D):c.434G>C (p.Gly145Ala) rs571794057 0.00001
NM_199242.3(UNC13D):c.443G>C (p.Gly148Ala) rs551855408 0.00001
NM_199242.3(UNC13D):c.464A>C (p.His155Pro) rs769765917 0.00001
NM_199242.3(UNC13D):c.46C>T (p.Arg16Cys) rs370709761 0.00001
NM_199242.3(UNC13D):c.556G>A (p.Glu186Lys) rs752768412 0.00001
NM_199242.3(UNC13D):c.578A>G (p.Glu193Gly) rs532317198 0.00001
NM_199242.3(UNC13D):c.634T>G (p.Ser212Ala) rs1415407939 0.00001
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe) rs757125102 0.00001
NM_199242.3(UNC13D):c.1006T>C (p.Phe336Leu)
NM_199242.3(UNC13D):c.1132A>G (p.Ile378Val)
NM_199242.3(UNC13D):c.1252C>T (p.Pro418Ser)
NM_199242.3(UNC13D):c.1407G>T (p.Trp469Cys) rs1362209226
NM_199242.3(UNC13D):c.1422G>T (p.Gln474His)
NM_199242.3(UNC13D):c.1448G>A (p.Gly483Asp) rs2064906920
NM_199242.3(UNC13D):c.1454C>G (p.Pro485Arg)
NM_199242.3(UNC13D):c.1656G>A (p.Met552Ile)
NM_199242.3(UNC13D):c.1728G>C (p.Arg576Ser)
NM_199242.3(UNC13D):c.1778T>C (p.Ile593Thr) rs2064901290
NM_199242.3(UNC13D):c.185C>T (p.Thr62Ile) rs1567822572
NM_199242.3(UNC13D):c.1906T>G (p.Cys636Gly)
NM_199242.3(UNC13D):c.1985T>C (p.Phe662Ser) rs2064896757
NM_199242.3(UNC13D):c.2045G>T (p.Arg682Leu)
NM_199242.3(UNC13D):c.2095T>C (p.Cys699Arg) rs2545980219
NM_199242.3(UNC13D):c.2150C>T (p.Ala717Val) rs2545980154
NM_199242.3(UNC13D):c.2182G>T (p.Val728Leu) rs761905559
NM_199242.3(UNC13D):c.2213A>C (p.Gln738Pro) rs2064892508
NM_199242.3(UNC13D):c.2241C>G (p.Ser747Arg)
NM_199242.3(UNC13D):c.2251G>A (p.Gly751Arg)
NM_199242.3(UNC13D):c.2262T>G (p.His754Gln)
NM_199242.3(UNC13D):c.2387A>G (p.Lys796Arg) rs2545978933
NM_199242.3(UNC13D):c.2524G>T (p.Ala842Ser) rs2143867469
NM_199242.3(UNC13D):c.2978G>A (p.Arg993His)
NM_199242.3(UNC13D):c.3095A>G (p.Glu1032Gly)
NM_199242.3(UNC13D):c.3121C>T (p.Arg1041Cys)
NM_199242.3(UNC13D):c.3140C>T (p.Pro1047Leu) rs779654621
NM_199242.3(UNC13D):c.3170T>C (p.Leu1057Pro) rs979518180
NM_199242.3(UNC13D):c.3247C>G (p.Gln1083Glu) rs760585630
NM_199242.3(UNC13D):c.3254C>T (p.Ala1085Val) rs778060284
NM_199242.3(UNC13D):c.3268C>T (p.Pro1090Ser) rs1332768685
NM_199242.3(UNC13D):c.454G>A (p.Gly152Arg) rs760852005
NM_199242.3(UNC13D):c.479T>C (p.Val160Ala)
NM_199242.3(UNC13D):c.680G>C (p.Arg227Pro) rs751394792
NM_199242.3(UNC13D):c.70C>T (p.Arg24Cys)
NM_199242.3(UNC13D):c.785C>T (p.Pro262Leu)
NM_199242.3(UNC13D):c.847A>C (p.Ile283Leu) rs61754871
NM_199242.3(UNC13D):c.877C>T (p.Arg293Cys) rs778801174
NM_199242.3(UNC13D):c.93T>A (p.Asp31Glu)

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