ClinVar Miner

List of variants reported as benign for Fanconi anemia by Natera, Inc.

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.2223-114C>T rs886952

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