ClinVar Miner

List of variants in gene BBS7 reported as benign for Bardet-Biedl syndrome 7

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_176824.3(BBS7):c.-133C>G rs2271176 0.31261
NM_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_176824.3(BBS7):c.*1286G>A rs1507996 0.21106
NM_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_176824.3(BBS7):c.*250T>G rs80171619 0.00193
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007

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