List of variants in gene BBS12 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)	rs372102223	0.00016
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)	rs150040166	0.00014
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)	rs144179606	0.00011
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)	rs199596849	0.00010
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)	rs778351153	0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)	rs376531209	0.00009
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)	rs369878286	0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)	rs374865012	0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)	rs767546051	0.00006
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	rs771136797	0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)	rs149473445	0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)	rs762558855	0.00005
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)	rs201158536	0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)	rs1487383886	0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met)	rs140675688	0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)	rs371908294	0.00004
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)	rs144843913	0.00004
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)	rs915644000	0.00004
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)	rs931117746	0.00003
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)	rs751515113	0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)	rs766952842	0.00002
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)	rs752254471	0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)	rs202225266	0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	rs771456483	0.00001
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)	rs775189952	0.00001
NM_152618.3(BBS12):c.1658T>A (p.Leu553His)	rs753004315	0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)	rs771057055	0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)	rs748009027	0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)	rs1361081580	0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile)	rs375439566	0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val)	rs1218692709	0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	rs565073445	0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)	rs1179124061	0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)	rs752533681	0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)	rs1183146847	0.00001
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)	rs199596849
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)	rs145489987
NM_152618.3(BBS12):c.1507G>A (p.Val503Met)	rs374865012
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)	rs758008862
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)	rs2150736114
NM_152618.3(BBS12):c.400G>T (p.Val134Phe)	rs1467415217
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)	rs994493028
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)	rs745504524
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)	rs779801356

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