List of variants reported as uncertain significance for Bardet-Biedl syndrome by Baylor Genetics

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	rs200865108	0.00157
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	rs138744839	0.00115
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)	rs138434761	0.00058
NM_170784.3(MKKS):c.1161+3A>G	rs192968747	0.00036
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)	rs149760791	0.00034
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu)	rs199919586	0.00023
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	rs372944937	0.00014
NM_025114.4(CEP290):c.31A>G (p.Met11Val)	rs185939120	0.00012
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	rs373378747	0.00011
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)	rs376531209	0.00009
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)	rs142648652	0.00006
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)	rs951217740	0.00005
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)	rs121434447	0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	rs758139447	0.00002
NM_025103.4(IFT74):c.94T>C (p.Ser32Pro)	rs201259858	0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His)	rs982037757	0.00002
NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro)	rs1312121495	0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val)	rs2036709987	0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)	rs1328019408	0.00001
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)	rs786205498	0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)	rs1683625962	0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	rs771456483	0.00001
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)	rs753709808
NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys)	rs2081354187
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)	rs766687896
NM_024649.5(BBS1):c.831-3C>G	rs113994179
NM_025114.4(CEP290):c.5226+5_5226+8del	rs1353301232
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)	rs781691906
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)	rs1800906037
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)	rs1726067918
NM_198428.3(BBS9):c.1016+5G>T	rs1800274291

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