ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3934+55T>A rs7195906 0.53795
NM_000135.4(FANCA):c.*673del rs17233826 0.48664
NM_000135.4(FANCA):c.3935-16C>T rs1061646 0.40513
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.*986G>A rs16966023 0.04351
NM_000135.4(FANCA):c.*673A>G rs62704561 0.03426
NM_000135.4(FANCA):c.*252G>C rs17233797 0.03296
NM_000135.4(FANCA):c.*385C>G rs17227424 0.02929
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000135.4(FANCA):c.*287G>A rs17227417 0.02259
NM_000135.4(FANCA):c.*670G>T rs17233812 0.01850
NM_000135.4(FANCA):c.*1011C>T rs17227452 0.01670
NM_000135.4(FANCA):c.*679T>G rs17233833 0.01627
NM_000135.4(FANCA):c.3935-9G>A rs9282680 0.01028
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000135.4(FANCA):c.*286C>T rs17233804 0.00019
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00012
NM_000135.4(FANCA):c.4261-9C>G rs368506826 0.00012
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.4260+29T>C rs1800359
NM_000135.4(FANCA):c.4261-75_4261-60del

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