ClinVar Miner

List of variants in gene combination FANCA, LOC112486223 reported as likely benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 0.00005
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.18C>T (p.Val6=) rs916719756 0.00001
NM_000135.4(FANCA):c.33G>C (p.Ser11=) rs1159682058 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.60G>A (p.Arg20=) rs1321607523 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.79+18G>C rs1214190329 0.00001
NM_000135.4(FANCA):c.79+8G>T rs1210341859 0.00001
NM_000135.4(FANCA):c.12G>A (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
NM_000135.4(FANCA):c.18C>A (p.Val6=)
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.21G>A (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.21G>C (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.24C>T (p.Asn8=) rs76275444
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
NM_000135.4(FANCA):c.36C>G (p.Gly12=) rs751361669
NM_000135.4(FANCA):c.42C>T (p.Asp14=)
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
NM_000135.4(FANCA):c.48G>A (p.Gly16=) rs2143731322
NM_000135.4(FANCA):c.54C>T (p.Arg18=) rs1380627104
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)
NM_000135.4(FANCA):c.63C>G (p.Ala21=)
NM_000135.4(FANCA):c.63C>T (p.Ala21=) rs973617998
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly) rs776297241
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.6C>A (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.6C>T (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
NM_000135.4(FANCA):c.76C>T (p.Leu26=) rs2041137276
NM_000135.4(FANCA):c.78G>A (p.Leu26=) rs1180368142
NM_000135.4(FANCA):c.79+13G>C
NM_000135.4(FANCA):c.79+14G>A
NM_000135.4(FANCA):c.79+15C>G
NM_000135.4(FANCA):c.79+15C>T
NM_000135.4(FANCA):c.79+16A>T
NM_000135.4(FANCA):c.79+17G>T rs2143730538
NM_000135.4(FANCA):c.79+19C>T
NM_000135.4(FANCA):c.79+20C>T
NM_000135.4(FANCA):c.79+21_79+43del
NM_000135.4(FANCA):c.79+9G>A rs2143730627
NM_000135.4(FANCA):c.9C>T (p.Asp3=)

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