List of variants studied for Meckel syndrome, type 6 by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)	rs1577406415
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)	rs1226794909

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