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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 157

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)	rs140992397	0.00007
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)	rs777111154	0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)	rs147479204	0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)	rs950623649	0.00004
NM_000136.3(FANCC):c.9A>T (p.Gln3His)	rs769585639	0.00004
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	rs374836770	0.00003
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys)	rs761845692	0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)	rs375921240	0.00003
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser)	rs1064793405	0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)	rs755283850	0.00003
NM_000136.3(FANCC):c.233C>A (p.Pro78His)	rs138722298	0.00002
NM_000136.3(FANCC):c.349G>A (p.Val117Ile)	rs781167993	0.00002
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly)	rs555753798	0.00002
NM_000136.3(FANCC):c.-2A>G	rs773045474	0.00001
NM_000136.3(FANCC):c.103T>C (p.Cys35Arg)	rs1588353540	0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)	rs143212932	0.00001
NM_000136.3(FANCC):c.109C>G (p.His37Asp)	rs864622230	0.00001
NM_000136.3(FANCC):c.112G>A (p.Val38Met)	rs778951584	0.00001
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)	rs1353498563	0.00001
NM_000136.3(FANCC):c.166-5C>T	rs753820400	0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)	rs149566909	0.00001
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)	rs150174412	0.00001
NM_000136.3(FANCC):c.238A>G (p.Ile80Val)	rs1064793110	0.00001
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln)	rs1060502519	0.00001
NM_000136.3(FANCC):c.271A>G (p.Ile91Val)	rs771619614	0.00001
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr)	rs774029807	0.00001
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro)	rs1223097554	0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro)	rs777731560	0.00001
NM_000136.3(FANCC):c.345G>A (p.Gln115=)	rs1031713372	0.00001
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp)	rs1282106098	0.00001
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe)	rs1064796148	0.00001
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe)	rs587779906	0.00001
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro)	rs1180924540	0.00001
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)	rs730881711	0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val)	rs1390412870	0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)	rs372338418	0.00001
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe)	rs1588218581	0.00001
NM_000136.3(FANCC):c.497T>G (p.Leu166Arg)	rs768672598	0.00001
NM_000136.3(FANCC):c.521+5G>C	rs1301899973	0.00001
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro)	rs1415268424	0.00001
NM_000136.3(FANCC):c.-4C>T
NM_000136.3(FANCC):c.100A>C (p.Thr34Pro)
NM_000136.3(FANCC):c.103T>A (p.Cys35Ser)
NM_000136.3(FANCC):c.107T>C (p.Leu36Pro)
NM_000136.3(FANCC):c.110A>C (p.His37Pro)	rs1564794663
NM_000136.3(FANCC):c.113T>G (p.Val38Gly)
NM_000136.3(FANCC):c.115G>A (p.Ala39Thr)
NM_000136.3(FANCC):c.118C>G (p.Gln40Glu)	rs1588353456
NM_000136.3(FANCC):c.119A>C (p.Gln40Pro)	rs1368894079
NM_000136.3(FANCC):c.120G>C (p.Gln40His)	rs905858585
NM_000136.3(FANCC):c.125A>G (p.Gln42Arg)
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)	rs1588353368
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg)	rs1588353368
NM_000136.3(FANCC):c.142A>G (p.Met48Val)
NM_000136.3(FANCC):c.152C>A (p.Ala51Asp)
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe)	rs1060502518
NM_000136.3(FANCC):c.163A>G (p.Met55Val)
NM_000136.3(FANCC):c.165+2_165+3insTT
NM_000136.3(FANCC):c.166-3C>T	rs1554857868
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
NM_000136.3(FANCC):c.167A>C (p.Asp56Ala)
NM_000136.3(FANCC):c.167A>G (p.Asp56Gly)
NM_000136.3(FANCC):c.169T>C (p.Ser57Pro)
NM_000136.3(FANCC):c.172A>G (p.Asn58Asp)
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr)	rs1588350373
NM_000136.3(FANCC):c.191T>A (p.Phe64Tyr)
NM_000136.3(FANCC):c.199A>G (p.Ile67Val)
NM_000136.3(FANCC):c.203G>T (p.Gly68Val)
NM_000136.3(FANCC):c.209T>G (p.Leu70Arg)
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)	rs567465885
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser)	rs567465885
NM_000136.3(FANCC):c.220G>T (p.Ala74Ser)
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys)	rs876661132
NM_000136.3(FANCC):c.22C>G (p.Leu8Val)
NM_000136.3(FANCC):c.233C>T (p.Pro78Leu)
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro)	rs752249253
NM_000136.3(FANCC):c.250G>A (p.Asp84Asn)
NM_000136.3(FANCC):c.253G>A (p.Glu85Lys)
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
NM_000136.3(FANCC):c.257G>A (p.Ser86Asn)
NM_000136.3(FANCC):c.25T>A (p.Ser9Thr)
NM_000136.3(FANCC):c.25_26delinsAA (p.Ser9Asn)
NM_000136.3(FANCC):c.26C>A (p.Ser9Tyr)
NM_000136.3(FANCC):c.274T>C (p.Trp92Arg)
NM_000136.3(FANCC):c.280T>G (p.Leu94Val)
NM_000136.3(FANCC):c.287G>A (p.Cys96Tyr)	rs955739738
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
NM_000136.3(FANCC):c.295A>C (p.Asn99His)
NM_000136.3(FANCC):c.299A>C (p.Lys100Thr)
NM_000136.3(FANCC):c.305C>T (p.Pro102Leu)
NM_000136.3(FANCC):c.320A>G (p.Gln107Arg)
NM_000136.3(FANCC):c.327A>T (p.Lys109Asn)
NM_000136.3(FANCC):c.328C>G (p.Leu110Val)	rs1554856102
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
NM_000136.3(FANCC):c.332A>G (p.Asn111Ser)
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu)	rs1830580247
NM_000136.3(FANCC):c.345+3A>G
NM_000136.3(FANCC):c.346-3del	rs766373744
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg)	rs1440493340
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del)	rs1825723799
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp)	rs766173332
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)	rs762884109
NM_000136.3(FANCC):c.362T>C (p.Ile121Thr)
NM_000136.3(FANCC):c.371C>A (p.Ala124Glu)
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)	rs374602991
NM_000136.3(FANCC):c.378A>T (p.Arg126Ser)
NM_000136.3(FANCC):c.381T>G (p.Phe127Leu)
NM_000136.3(FANCC):c.388G>A (p.Glu130Lys)
NM_000136.3(FANCC):c.389A>T (p.Glu130Val)
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)	rs199968672
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)	rs1419677503
NM_000136.3(FANCC):c.391G>A (p.Val131Ile)	rs543546719
NM_000136.3(FANCC):c.392T>C (p.Val131Ala)	rs201621236
NM_000136.3(FANCC):c.394G>A (p.Ala132Thr)
NM_000136.3(FANCC):c.400T>C (p.Phe134Leu)
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
NM_000136.3(FANCC):c.409G>A (p.Gly137Ser)
NM_000136.3(FANCC):c.410G>T (p.Gly137Val)
NM_000136.3(FANCC):c.418T>A (p.Tyr140Asn)
NM_000136.3(FANCC):c.419A>G (p.Tyr140Cys)
NM_000136.3(FANCC):c.422C>T (p.Ala141Val)	rs2135587894
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala)	rs864622581
NM_000136.3(FANCC):c.425C>A (p.Pro142His)	rs1064793605
NM_000136.3(FANCC):c.425C>T (p.Pro142Leu)
NM_000136.3(FANCC):c.434A>G (p.Tyr145Cys)
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser)	rs1564720359
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr)	rs1564720334
NM_000136.3(FANCC):c.439C>T (p.Pro147Ser)
NM_000136.3(FANCC):c.457A>G (p.Met153Val)
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
NM_000136.3(FANCC):c.461T>G (p.Val154Gly)	rs2135579805
NM_000136.3(FANCC):c.463T>G (p.Leu155Val)
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile)	rs1825652301
NM_000136.3(FANCC):c.472G>A (p.Ala158Thr)	rs372338418
NM_000136.3(FANCC):c.478G>C (p.Glu160Gln)
NM_000136.3(FANCC):c.487G>A (p.Glu163Lys)
NM_000136.3(FANCC):c.487G>C (p.Glu163Gln)
NM_000136.3(FANCC):c.491A>G (p.Asn164Ser)
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile)	rs950623649
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
NM_000136.3(FANCC):c.496C>T (p.Leu166Phe)	rs1588218514
NM_000136.3(FANCC):c.4G>A (p.Ala2Thr)	rs2136102300
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)	rs749322338
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu)	rs769998628
NM_000136.3(FANCC):c.521+5del	rs2135578132
NM_000136.3(FANCC):c.521G>T (p.Arg174Leu)
NM_000136.3(FANCC):c.55C>G (p.Leu19Val)
NM_000136.3(FANCC):c.59C>G (p.Ser20Cys)
NM_000136.3(FANCC):c.61G>A (p.Val21Ile)	rs772386467
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)	rs772386467
NM_000136.3(FANCC):c.67G>T (p.Asp23Tyr)
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile)	rs1489419613
NM_000136.3(FANCC):c.88A>T (p.Thr30Ser)
NM_000136.3(FANCC):c.92A>G (p.Gln31Arg)
NM_000136.3(FANCC):c.98A>T (p.Asp33Val)

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