List of variants reported as likely pathogenic for DiGeorge syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000022.10:g.(?_19748408)_(19748823_?)dup
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.711+1G>A	rs1731409120
NM_080646.2(TBX1):c.1072_1073del (p.Glu358fs)
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)	rs2145836461

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