ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072

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