ClinVar Miner

List of variants in gene BBS2 studied for Retinitis pigmentosa 74

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Total variants: 12
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NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585

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