List of variants reported as pathogenic for chromosome 22q deletion by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	rs41298838	0.00148
NM_001379200.1(TBX1):c.1250del (p.Ser417fs)	rs1601294362
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr)	rs28939675
NM_001379200.1(TBX1):c.609C>G (p.His203Gln)	rs74315522

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