List of variants reported as uncertain significance for Meckel syndrome, type 9

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser)	rs147684440	0.00104
NM_015681.6(B9D1):c.*58G>A	rs534428777	0.00064
NM_015681.6(B9D1):c.*47C>T	rs200124070	0.00023
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)	rs201299216	0.00022
NM_015681.6(B9D1):c.516C>T (p.Asn172=)	rs149758860	0.00011
NM_015681.6(B9D1):c.597C>G (p.Pro199=)	rs753785719	0.00007
NM_015681.6(B9D1):c.-42C>T	rs750522077	0.00002
NM_015681.6(B9D1):c.-79C>G	rs529182605	0.00001
NM_015681.6(B9D1):c.457G>A (p.Gly153Ser)	rs372249324	0.00001
NM_015681.6(B9D1):c.90C>T (p.Cys30=)	rs886052685	0.00001
NM_015681.6(B9D1):c.-21C>T	rs1911267997
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)	rs886039811
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_015681.6(B9D1):c.9C>G (p.Thr3=)	rs749611797

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