ClinVar Miner

List of variants studied for Fanconi anemia complementation group C by Counsyl

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_000136.2(FANCC):c.1329+166_1329+168delGGT rs1554829374
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.2(FANCC):c.1329+246delC rs542091036
NM_000136.2(FANCC):c.1329+5delG rs878853670
NM_000136.2(FANCC):c.165+1delG rs1554858249
NM_000136.2(FANCC):c.345+1delG rs1057516247
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131
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.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1175_1176AG[3] (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
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>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+9C>T rs863224323
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.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954

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