List of variants studied for aplastic anemia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	rs141551053	0.00043
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00024
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)	rs201047375	0.00006
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	rs587781860	0.00003
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)	rs776060270	0.00002
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)	rs1554835099	0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)	rs779366136	0.00001
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)	rs1375911072	0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	rs781609846	0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	rs770637624	0.00001
NM_000969.5(RPL5):c.74-1G>C	rs1553284997
NM_001029.5(RPS26):c.224_225del (p.Val75fs)	rs1555208596
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	rs587777569
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)	rs1057518847
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg)	rs2049559202
NM_058216.3(RAD51C):c.572-1G>C	rs1413872299

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