ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln) rs571996250 0.00002
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.876C>G (p.His292Gln) rs527897404 0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val) rs771319430 0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys) rs779840229 0.00001
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.522+715_2852+656del
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) rs2039157272
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser) rs2143088016
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe) rs141918444
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) rs35566151
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) rs377078635
NM_001113525.2(ZNF276):c.*469G>C
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn) rs1209146448

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