ClinVar Miner

List of variants studied for Joubert syndrome 27

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_015681.6(B9D1):c.63+23G>A rs10445411 0.56182
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_015681.6(B9D1):c.568A>T (p.Thr190Ser) rs147684440 0.00104
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) rs771170000 0.00002
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_015681.6(B9D1):c.338G>C (p.Gly113Ala) rs2152261827
NM_015681.6(B9D1):c.341G>C (p.Arg114Pro) rs778260923
NM_015681.6(B9D1):c.472+107G>A rs1908281984
NM_015681.6(B9D1):c.517GTG[1] (p.Val174del) rs886038206

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