ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 by Fulgent Genetics, Fulgent Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.941-8C>G rs373354290

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