List of variants studied for Meester-Loeys syndrome by Centre of Medical Genetics, University of Antwerp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001711.6(BGN):c.770+1G>A	rs1556993331	0.00001
NM_001711.6(BGN):c.223C>T (p.Gln75Ter)	rs1556992691
NM_001711.6(BGN):c.351+1G>A
NM_001711.6(BGN):c.441delinsAA (p.Asn148fs)
NM_001711.6(BGN):c.46del (p.Ala16fs)
NM_001711.6(BGN):c.565G>A (p.Glu189Lys)
NM_001711.6(BGN):c.59_60insAA (p.Gln21fs)	rs1602981441
NM_001711.6(BGN):c.5G>A (p.Trp2Ter)	rs886037823
NM_001711.6(BGN):c.677-2A>G
NM_001711.6(BGN):c.677-2A>T
NM_001711.6(BGN):c.75G>A (p.Trp25Ter)
NM_001711.6(BGN):c.908A>C (p.Gln303Pro)	rs886037824
NM_001711.6(BGN):c.910-1G>A

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