List of variants in gene FANCA reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	rs149112292	0.00125
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	rs148100796	0.00006
NM_000135.4(FANCA):c.2778+10C>T	rs371786839	0.00005
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	rs1173704265	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)	rs779480428	0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)	rs745568821	0.00001
NM_000135.4(FANCA):c.2853-2A>C	rs947311062	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
GRCh37/hg19 16q24.3(chr16:89828385-89858029)x1
GRCh37/hg19 16q24.3(chr16:89847604-89862444)x0
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.1194del (p.Cys399fs)	rs2040090995
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)	rs774026652
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1615del (p.Asp539fs)	rs778507965
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	rs753980264
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_000135.4(FANCA):c.238del (p.Cys80fs)	rs864622187
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)	rs761469030
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)	rs1060501880
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)	rs766643461
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	rs1283284704
NM_000135.4(FANCA):c.2910del (p.Gly972fs)	rs1278836130
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)	rs1057516430
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3348+1G>A	rs751266148
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)	rs1598067532
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	rs747851434
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)	rs2062169243
NM_000135.4(FANCA):c.793-1G>A	rs1567642367
NM_000135.4(FANCA):c.893+5G>C	rs2040352785
NM_000135.4(FANCA):c.97del (p.Glu33fs)	rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.