List of variants reported as pathogenic for Fanconi anemia by Counsyl

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Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	rs148100796	0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	rs587781321	0.00006
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	rs200293302	0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs)	rs754367349	0.00004
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	rs587780228	0.00003
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)	rs773159223	0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	rs730881939	0.00002
NM_058216.3(RAD51C):c.706-2A>G	rs587780259	0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)	rs772858764	0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)	rs745568821	0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs)	rs1555534521	0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	rs747892390	0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)	rs587780226	0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	rs770637624	0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	rs587782528	0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.1359+1G>C	rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)	rs1438828232
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	rs753980264
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)	rs1555547955
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	rs763378933
NM_000135.4(FANCA):c.2602-2A>T	rs1555545592
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	rs1283284704
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)	rs927630499
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)	rs1057516430
NM_000135.4(FANCA):c.3348+1G>A	rs751266148
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	rs868273545
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)	rs776969626
NM_000135.4(FANCA):c.4261-2A>C	rs915983602
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)	rs758528624
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)	rs1184639006
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000136.3(FANCC):c.165+1G>T	rs794726668
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)	rs587781292
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)	rs1057519365
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)	rs730881649
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	rs786203717
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	rs387907159
NM_058216.3(RAD51C):c.732del (p.Ile244fs)	rs1060502601
NM_058216.3(RAD51C):c.93del (p.Phe32fs)	rs730881942

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