ClinVar Miner

List of variants in gene FANCA, LOC112486223 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 123
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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.79+10C>T rs573174362 0.00015
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.27C>T (p.Ser9=) rs540584108 0.00005
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00004
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 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.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.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 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+1G>A rs1483028018 0.00001
NM_000135.4(FANCA):c.79+8G>T rs1210341859 0.00001
NM_000135.4(FANCA):c.7G>C (p.Asp3His) rs1246636933 0.00001
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala) rs1183087111 0.00001
NM_000135.4(FANCA):c.-1_2del (p.Met1del) rs2143732272
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
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.14G>A (p.Trp5Ter) rs2041143697
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys) rs2143731999
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.17T>G (p.Val6Gly) rs1800282
NM_000135.4(FANCA):c.18C>A (p.Val6=)
NM_000135.4(FANCA):c.18C>G (p.Val6=) rs916719756
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) rs780667753
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.1del (p.Met1fs)
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.21G>A (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.21G>C (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile) rs757468756
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
NM_000135.4(FANCA):c.24C>T (p.Asn8=) rs76275444
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr) rs752776388
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys) rs752776388
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
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)
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
NM_000135.4(FANCA):c.36C>G (p.Gly12=) rs751361669
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu) rs750021837
NM_000135.4(FANCA):c.42C>T (p.Asp14=)
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
NM_000135.4(FANCA):c.48G>A (p.Gly16=) rs2143731322
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala) rs2041144813
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala) rs1326963514
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
NM_000135.4(FANCA):c.54C>T (p.Arg18=) rs1380627104
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
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.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.65G>C (p.Trp22Ser) rs761341952
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) rs2041138210
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
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.70G>T (p.Glu24Ter) rs1311396994
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
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.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+1G>C rs1483028018
NM_000135.4(FANCA):c.79+20C>T
NM_000135.4(FANCA):c.79+21_79+43del
NM_000135.4(FANCA):c.79+4G>A rs2041136967
NM_000135.4(FANCA):c.79+4G>C rs2041136967
NM_000135.4(FANCA):c.79+6T>C
NM_000135.4(FANCA):c.79+9G>A rs2143730627
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup) rs2143731691
NM_000135.4(FANCA):c.9C>T (p.Asp3=)

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