ClinVar Miner

List of variants in gene BBS2 reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.382T>C (p.Leu128=) rs374060552
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.744T>C (p.His248=) rs186893286
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

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