ClinVar Miner

List of variants studied for bardet-biedl syndrome 21

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys) rs768222931 0.00006
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_177965.4(CFAP418):c.155+12G>A rs371521751 0.00002
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr) rs759733354 0.00002
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) rs748807525 0.00002
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) rs751922029 0.00001
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly) rs1197547920 0.00001
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter) rs766087213 0.00001
NM_177965.4(CFAP418):c.414G>A (p.Leu138=) rs150592488 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_177965.4(CFAP418):c.533C>T (p.Ala178Val) rs375314973 0.00001
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) rs1483148451 0.00001
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro) rs767780150 0.00001
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_177965.4(CFAP418):c.240del (p.Ser81fs) rs1587357327
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) rs757837788
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu) rs1023654494
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) rs149558233
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) rs115660509

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