ClinVar Miner

List of variants in gene FANCC reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+1G>T
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) rs2136102345
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386

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