List of variants in gene combination AOPEP, FANCC reported as likely pathogenic

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: 103

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000136.3(FANCC):c.843+5G>A	rs369082921	0.00006
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)	rs55939573	0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	rs944083227	0.00001
NM_000136.3(FANCC):c.1329+1G>T	rs1554829441	0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	rs867319477	0.00001
NM_000136.3(FANCC):c.522-1G>C	rs1014112491	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.844-1G>C	rs774209201	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)	rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1037dup (p.Ser347fs)	rs1057516248
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)	rs1064795597
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1072+1G>A	rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1073-1G>C	rs1554830249
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)	rs2072245226
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)	rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs)	rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs)	rs1554830220
NM_000136.3(FANCC):c.1154+2dup	rs1386979449
NM_000136.3(FANCC):c.1155-1G>A	rs1554829575
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1155-1G>T
NM_000136.3(FANCC):c.1155-2A>G	rs1343170313
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)	rs1554829561
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)	rs1554829555
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)	rs200719554
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)	rs2134548133
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)	rs766105286
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1317_1318del (p.Arg439fs)
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1330-2A>C	rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.1331T>G (p.Val444Gly)
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)	rs1564641485
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)	rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)	rs1057516488
NM_000136.3(FANCC):c.1533+1G>T	rs753885687
NM_000136.3(FANCC):c.1533+2T>C	rs1057517170
NM_000136.3(FANCC):c.1534-1G>T	rs1364238660
NM_000136.3(FANCC):c.1534-2A>G	rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)	rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)	rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)	rs1057516455
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.522-1G>A
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.595del (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.595dup (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.640dup (p.Ile214fs)	rs1057517203
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)	rs1830059125
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.686+1G>C	rs1057517125
NM_000136.3(FANCC):c.686+1G>T	rs1057517125
NM_000136.3(FANCC):c.687-1G>A	rs1588134748
NM_000136.3(FANCC):c.704C>T (p.Pro235Leu)
NM_000136.3(FANCC):c.705del (p.Met236fs)	rs2135168243
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)	rs1827526425
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	rs776054094
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000136.3(FANCC):c.831del (p.Asp278fs)	rs1057516792
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C	rs587779909
NM_000136.3(FANCC):c.843+1G>T	rs587779909
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T	rs774209201
NM_000136.3(FANCC):c.867_868insT (p.Ile290fs)
NM_000136.3(FANCC):c.881T>C (p.Val294Ala)
NM_000136.3(FANCC):c.883dup (p.Asp295fs)	rs1826007748
NM_000136.3(FANCC):c.896+1G>C	rs1554833186
NM_000136.3(FANCC):c.896+2T>A	rs863224441
NM_000136.3(FANCC):c.896+2T>G	rs863224441
NM_000136.3(FANCC):c.897-1G>A	rs1588101086
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)	rs1825775052
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000136.3(FANCC):c.996+1G>C	rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA	rs1825770738
NM_000136.3(FANCC):c.996+2T>C
NM_000136.3(FANCC):c.996G>A (p.Gln332=)	rs1825770865
NM_000136.3(FANCC):c.997-1G>A	rs1588070986

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