ClinVar Miner

List of variants in gene FANCA, LOC112486223 studied for Fanconi anemia complementation group A

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000135.4(FANCA):c.-18G>A rs886038245 0.00014
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00005
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00004
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys) rs982957228 0.00004
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00003
NM_000135.4(FANCA):c.16G>T (p.Val6Phe) rs1348835311 0.00002
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.-28C>G rs886052490 0.00001
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu) rs1484087361 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter) rs2041143697
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter) rs2143731999
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.16dup (p.Val6fs) rs2544395257
NM_000135.4(FANCA):c.18C>G (p.Val6=) rs916719756
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) rs772712346
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg) rs772712346
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) rs769479800
NM_000135.4(FANCA):c.32del (p.Ser11fs) rs2544395103
NM_000135.4(FANCA):c.34G>A (p.Gly12Ser)
NM_000135.4(FANCA):c.37C>T (p.Gln13Ter)
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.41A>T (p.Asp14Val)
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.50dup (p.Arg18fs) rs748624754
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe) rs928016876
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) rs2041138210
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.79+1G>C rs1483028018

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