ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia complementation group A by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1111_1114TTGG[1] (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.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2529_2530CT[3] (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.2840C>G (p.Ser947Ter) rs745568821
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.2T>C (p.Met1Thr) rs769479800
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.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4122_4123CA[1] (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.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099

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