ClinVar Miner

List of variants studied for Meckel syndrome, type 9

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Total variants: 19
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HGVS dbSNP
B9D1, 1.71-MB DEL
NM_015681.5(B9D1):c.*47C>T rs200124070
NM_015681.5(B9D1):c.*58G>A
NM_015681.5(B9D1):c.-110G>A rs117169107
NM_015681.5(B9D1):c.-21C>T
NM_015681.5(B9D1):c.-42C>T
NM_015681.5(B9D1):c.-70G>A rs2296978
NM_015681.5(B9D1):c.-79C>G rs529182605
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.5(B9D1):c.457G>A (p.Gly153Ser) rs372249324
NM_015681.5(B9D1):c.472+28C>T rs4924987
NM_015681.5(B9D1):c.516C>T (p.Asn172=)
NM_015681.5(B9D1):c.568A>T (p.Thr190Ser)
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_015681.5(B9D1):c.597C>G (p.Pro199=) rs753785719
NM_015681.5(B9D1):c.90C>T (p.Cys30=) rs886052685
NM_015681.5(B9D1):c.9C>G (p.Thr3=)

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