ClinVar Miner

List of variants in gene FANCA, LOC132090450 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3408+45G>A rs1800355 0.05862
NM_000135.4(FANCA):c.3408+33T>C rs17227191 0.01875
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00001
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr) rs2038408218 0.00001
NM_000135.4(FANCA):c.3409-16G>C rs1340274026 0.00001
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=) rs2143109313
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro) rs2038408800
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=) rs867468844
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) rs2038408351
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=) rs2143109171
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val) rs2038408286
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) rs373168838
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=) rs373168838
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=) rs2143109062
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs) rs2038407808
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) rs2143108985
NM_000135.4(FANCA):c.3408+11C>T
NM_000135.4(FANCA):c.3408+18C>T
NM_000135.4(FANCA):c.3408+19C>T
NM_000135.4(FANCA):c.3408+1G>A rs1567601557
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3408+7T>A
NM_000135.4(FANCA):c.3408+7T>C
NM_000135.4(FANCA):c.3408+8G>A
NM_000135.4(FANCA):c.3408+9C>A
NM_000135.4(FANCA):c.3408+9C>T rs377702890
NM_000135.4(FANCA):c.3409-14G>A
NM_000135.4(FANCA):c.3409-14G>T
NM_000135.4(FANCA):c.3409-15C>T
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3409-19G>A
NM_000135.4(FANCA):c.3409-20T>C
NM_000135.4(FANCA):c.3409-22_3409-20del
NM_000135.4(FANCA):c.3409-25_3418del

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