ClinVar Miner

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

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Gene type:
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Total variants: 6
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NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418

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