ClinVar Miner

List of variants in gene B9D1 reported as uncertain significance for Meckel syndrome, type 9

Included ClinVar conditions (2):
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Total variants: 11
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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.-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.209T>C (p.Ile70Thr) rs886039811
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)

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