ClinVar Miner

List of variants studied for Fanconi anemia complementation group C by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu) rs200719554 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639 0.00005
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 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.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156 0.00001
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu) rs730881721 0.00001
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230 0.00001
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637 0.00001
NM_000136.3(FANCC):c.1151A>G (p.His384Arg) rs577302082 0.00001
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) rs1588047887 0.00001
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) rs1554828443 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.238A>G (p.Ile80Val) rs1064793110 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.532G>A (p.Glu178Lys) rs554302947 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404 0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718 0.00001
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154 0.00001
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511 0.00001
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002 0.00001
NM_000136.3(FANCC):c.950T>G (p.Val317Gly) rs1438781491 0.00001
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) rs745910444 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) rs550462055
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro) rs1588047966
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del) rs1588047930
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del) rs1210997135
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys) rs201549126
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe) rs1064793901
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg) rs1588029264
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) rs773270231
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1596A>G (p.Arg532=) rs1588008241
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
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.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.565C>A (p.Pro189Thr) rs377620735
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) rs143213659
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) rs772386467
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) rs1830058618
NM_000136.3(FANCC):c.677C>T (p.Ala226Val) rs1166491683
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) rs972738983
NM_000136.3(FANCC):c.948G>C (p.Gln316His) rs1554832851
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+9T>A rs757984397

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