List of variants in gene FANCC reported as uncertain significance for Fanconi anemia complementation group C

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_000136.3(FANCC):c.-225C>T	rs182633348	0.00262
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	rs138629441	0.00091
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	rs143152201	0.00019
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)	rs140992397	0.00007
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	rs587779905	0.00005
NM_000136.3(FANCC):c.-246A>G	rs1000528763	0.00004
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.191T>G (p.Phe64Cys)	rs375921240	0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)	rs765990832	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.457-7T>C	rs749994612	0.00002
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.143T>C (p.Met48Thr)	rs1353498563	0.00001
NM_000136.3(FANCC):c.166-4_166-1dup	rs746016938	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.239T>C (p.Ile80Thr)	rs4647419	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.436_438del (p.Tyr146del)	rs761347179	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.-172G>T	rs1057515706
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)	rs1831182314
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)	rs777111154
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)	rs567465885
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)	rs1830583670
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)	rs762884109
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)	rs374602991
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.3G>A (p.Met1Ile)	rs1368374192
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)	rs1564720454
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr)	rs1564720334
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)	rs749322338
NM_000136.3(FANCC):c.516A>G (p.Gln172=)	rs748322179
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)	rs772386467
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	rs1831183107

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