List of variants in gene BBS12 reported as likely pathogenic for Bardet-Biedl syndrome 12

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: 98

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	rs758217005	0.00012
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	rs767068756	0.00005
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	rs750366365	0.00004
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	rs776730549	0.00003
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	rs1450190654	0.00003
NM_152618.3(BBS12):c.1007del (p.Thr336fs)	rs1365414881	0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	0.00001
NM_152618.3(BBS12):c.1151del (p.Ser384fs)	rs1553941404	0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	rs771456483	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	rs1357690062	0.00001
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)	rs1284876635	0.00001
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs)	rs764074545	0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	rs752202089	0.00001
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)	rs752586913	0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)	rs1194574169	0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	rs565073445	0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	rs770872200	0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	rs121918328	0.00001
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)	rs1553941369
NM_152618.3(BBS12):c.1042G>T (p.Glu348Ter)	rs1560707540
NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)	rs2485074976
NM_152618.3(BBS12):c.1082del (p.Gly361fs)	rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)	rs1800908907
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)	rs2150736865
NM_152618.3(BBS12):c.1124_1125del (p.Ser375fs)
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)	rs1553941391
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)	rs1800911222
NM_152618.3(BBS12):c.1149del (p.Asp383fs)	rs2485075357
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)	rs747159816
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)	rs766741204
NM_152618.3(BBS12):c.1289dup (p.Arg431fs)	rs1560707962
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)	rs1553941433
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)	rs2485076250
NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	rs1195341481
NM_152618.3(BBS12):c.1438del (p.Asp480fs)
NM_152618.3(BBS12):c.1455del (p.Asn485fs)	rs2150737331
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)	rs2485076903
NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)	rs2485076951
NM_152618.3(BBS12):c.149_150delinsA (p.Ile50fs)
NM_152618.3(BBS12):c.1520del (p.Pro507fs)	rs2485077084
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)	rs1800925762
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	rs752762669
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)	rs1022524996
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)	rs2485077226
NM_152618.3(BBS12):c.1566T>A (p.Cys522Ter)
NM_152618.3(BBS12):c.1572T>A (p.Tyr524Ter)
NM_152618.3(BBS12):c.1579_1589delinsATAG (p.Tyr527fs)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)	rs755314355
NM_152618.3(BBS12):c.1616del (p.Gly539fs)	rs1800928352
NM_152618.3(BBS12):c.1626del (p.Glu543fs)	rs2485077539
NM_152618.3(BBS12):c.1639_1640del (p.Cys546_Leu547insTer)
NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)	rs2485077616
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	rs2150737598
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)	rs2485077697
NM_152618.3(BBS12):c.1673del (p.Leu558fs)	rs2485077709
NM_152618.3(BBS12):c.1697C>G (p.Ser566Ter)
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)	rs1800931751
NM_152618.3(BBS12):c.1750del (p.Arg584fs)	rs2485077946
NM_152618.3(BBS12):c.1756del (p.Thr586fs)	rs2485077960
NM_152618.3(BBS12):c.1795del (p.Leu599fs)	rs1553941540
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)	rs2485078084
NM_152618.3(BBS12):c.1827_1829del (p.Tyr609_Ser610delinsTer)	rs2485078182
NM_152618.3(BBS12):c.1880_1881del (p.Thr627fs)	rs2485078325
NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)	rs2485078351
NM_152618.3(BBS12):c.1887_1888del (p.Gly630fs)	rs1354316710
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)	rs1177246173
NM_152618.3(BBS12):c.1938_1954del (p.Arg646fs)
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)	rs1444062882
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)	rs2150737953
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)	rs779685329
NM_152618.3(BBS12):c.1999dup (p.Thr667fs)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)	rs746020725
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)	rs1578489760
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs)	rs1173504533
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)	rs1553941150
NM_152618.3(BBS12):c.376G>T (p.Glu126Ter)	rs934909698
NM_152618.3(BBS12):c.416_419del (p.Asp139fs)	rs1553941255
NM_152618.3(BBS12):c.424dup (p.Asp142fs)	rs1553941258
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)	rs774035109
NM_152618.3(BBS12):c.49dup (p.Gln17fs)	rs756061536
NM_152618.3(BBS12):c.568dup (p.Ser190fs)	rs1553941279
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer)	rs1560706958
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	rs745448288
NM_152618.3(BBS12):c.681_684del (p.Arg227fs)	rs2485073340
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)	rs769588983
NM_152618.3(BBS12):c.694dup (p.Ile232fs)	rs2150736431
NM_152618.3(BBS12):c.719_720del (p.Thr240fs)	rs2485073468
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs)	rs865920726
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)	rs974173261
NM_152618.3(BBS12):c.869_873del (p.Val290fs)	rs1283655166
NM_152618.3(BBS12):c.911_912del (p.Cys304fs)	rs2150736648
NM_152618.3(BBS12):c.948_952del (p.Phe316fs)	rs2485074560

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