ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as pathogenic for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00017
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter) rs758475123 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00003
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter) rs748180733 0.00002
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00002
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs) rs2086920799 0.00001
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter) rs755464133 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser) rs765576835 0.00001
NM_001018115.3(FANCD2):c.696-1G>A rs954555240 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter) rs2086917516
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter) rs2086918352
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs) rs2470759599
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs) rs2470759676
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer) rs2125000318
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs) rs2469932873
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs) rs758121289
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs) rs758121289
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter) rs962867926
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter) rs2469933167
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter) rs1477306020
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer) rs2469955401
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter) rs1247410343
NM_001018115.3(FANCD2):c.1844del (p.Gln615fs)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs) rs2469965487
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs) rs1221526082
NM_001018115.3(FANCD2):c.1956del (p.His654fs) rs2469966729
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs) rs2469968584
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter) rs147532349
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs) rs2125035374
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs) rs747469438
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter) rs774707377
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs) rs2469968826
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter) rs2469968856
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs) rs747604554
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs) rs2469972032
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs) rs2469972086
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs) rs2124974621
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter) rs2469975881
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter) rs2469975972
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter) rs1693432220
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter) rs1693433379
NM_001018115.3(FANCD2):c.2794del (p.Val932fs)
NM_001018115.3(FANCD2):c.2809del (p.His937fs) rs2469997242
NM_001018115.3(FANCD2):c.280del (p.Glu94fs) rs2470719043
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter) rs2469997346
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer) rs1693439187
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter) rs1004943548
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2854_2855del (p.His951_Thr952insTer)
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs) rs2469997398
NM_001018115.3(FANCD2):c.2889del (p.Glu964fs)
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs) rs1693635796
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer) rs2470719334
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer) rs2470719599
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter) rs2470719712
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs) rs2470721408
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_001018115.3(FANCD2):c.592C>T (p.Gln198Ter)
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter) rs1307143430
NM_001018115.3(FANCD2):c.694del (p.Ser232fs) rs777594776
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs) rs2470748827
NM_001018115.3(FANCD2):c.775del (p.Leu259fs) rs2124989402
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs) rs2470753672
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs) rs2470708927
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_033084.6(FANCD2):c.2609_2613del rs2469993551

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