ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group A by Natera, Inc.

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ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
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.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
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.1549C>T (p.Arg517Trp) rs587778309 0.00011
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.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1716-3C>T rs760855591 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser) rs370731587 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn) rs1262122499 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2407G>A (p.Val803Met) rs769083458 0.00001
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp) rs2039769336
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) rs755925068
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly) rs2039264657
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2853-8T>C rs2038845082
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) rs764561391
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595

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