List of variants reported as likely pathogenic for anemia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	rs143944436	0.00019
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	rs374417889	0.00003
NM_000037.4(ANK1):c.4051del (p.Asp1351fs)	rs1586114714
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)	rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)	rs1553270437
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)	rs1564492988
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs)	rs1564443979
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)	rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)	rs1168074679
NM_001081.4(CUBN):c.5549-2A>C	rs1564435513
NM_001081.4(CUBN):c.7534-1G>T	rs1588639188
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)	rs1564379463
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)	rs1590859406

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