List of variants reported as uncertain significance for Bardet-Biedl syndrome; McKusick-Kaufman syndrome by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 158

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HGVS	dbSNP	gnomAD frequency
NM_170784.3(MKKS):c.699C>G (p.Ile233Met)	rs770801103	0.00070
NM_170784.3(MKKS):c.1161+3A>G	rs192968747	0.00036
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)	rs147882975	0.00022
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)	rs149626732	0.00021
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)	rs199553497	0.00020
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)	rs558813240	0.00016
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu)	rs141201812	0.00016
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	rs372944937	0.00014
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr)	rs375952682	0.00012
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly)	rs747959135	0.00012
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp)	rs754207459	0.00011
NM_170784.3(MKKS):c.926G>A (p.Arg309His)	rs199939179	0.00010
NM_170784.3(MKKS):c.1246C>A (p.His416Asn)	rs148800011	0.00008
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)	rs374485160	0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)	rs201243884	0.00008
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile)	rs376038160	0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)	rs141181516	0.00006
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)	rs368277209	0.00006
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val)	rs778950712	0.00005
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu)	rs139509933	0.00005
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn)	rs776107451	0.00004
NM_170784.3(MKKS):c.202T>G (p.Leu68Val)	rs200836375	0.00004
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys)	rs755050269	0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)	rs779042065	0.00004
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)	rs745728640	0.00003
NM_170784.3(MKKS):c.1161+4G>A	rs761886025	0.00003
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys)	rs754555322	0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His)	rs138111422	0.00003
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)	rs113032343	0.00003
NM_170784.3(MKKS):c.923A>G (p.His308Arg)	rs967873180	0.00003
NM_170784.3(MKKS):c.1085A>G (p.His362Arg)	rs373858682	0.00002
NM_170784.3(MKKS):c.1169G>A (p.Cys390Tyr)	rs1361214616	0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)	rs779416496	0.00002
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)	rs772537800	0.00002
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)	rs745313480	0.00002
NM_170784.3(MKKS):c.554C>T (p.Thr185Ile)	rs1321192032	0.00002
NM_170784.3(MKKS):c.871G>A (p.Val291Ile)	rs910468710	0.00002
NM_170784.3(MKKS):c.1006C>G (p.Leu336Val)	rs759986531	0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)	rs1401483166	0.00001
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr)	rs1414454066	0.00001
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile)	rs2064859757	0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)	rs1029793006	0.00001
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val)	rs2064852512	0.00001
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys)	rs748071139	0.00001
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile)	rs951838467	0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)	rs776235071	0.00001
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly)	rs993196591	0.00001
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln)	rs2064910872	0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val)	rs528833454	0.00001
NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys)	rs749139446	0.00001
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp)	rs1309710762	0.00001
NM_170784.3(MKKS):c.307A>G (p.Ile103Val)	rs771002171	0.00001
NM_170784.3(MKKS):c.31T>A (p.Leu11Met)	rs1443376346	0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr)	rs148221053	0.00001
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu)	rs768539582	0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg)	rs1303349629	0.00001
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr)	rs1215659134	0.00001
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser)	rs780570415	0.00001
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala)	rs760185677	0.00001
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr)	rs771767882	0.00001
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg)	rs375902906	0.00001
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys)	rs575896442	0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)	rs147704542	0.00001
NM_170784.3(MKKS):c.8G>A (p.Arg3His)	rs770619894	0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr)	rs370219365	0.00001
NC_000020.10:g.(?_10256140)_(10654178_?)dup
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg)	rs1455491260
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro)	rs2064859899
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)	rs144892179
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr)
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr)	rs2122223791
NM_170784.3(MKKS):c.1272+6T>C	rs2064851919
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg)	rs1364157544
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)	rs746696111
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)	rs746696111
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly)
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile)	rs754132134
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser)	rs1057516054
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe)	rs1600843195
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys)	rs2122219766
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)	rs142327258
NM_170784.3(MKKS):c.1474G>C (p.Asp492His)	rs142327258
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile)	rs772349046
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1573dup (p.Cys525fs)	rs2122219488
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile)	rs1239900206
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu)	rs2122219454
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del)	rs2122219438
NM_170784.3(MKKS):c.1583A>G (p.His528Arg)
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val)	rs2122219422
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu)	rs750705949
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg)	rs889037739
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly)	rs149095209
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr)	rs532487848
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg)	rs369472120
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)	rs554429487
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val)	rs2064833443
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
NM_170784.3(MKKS):c.251A>C (p.His84Pro)	rs2064908864
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)	rs776936558
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser)	rs1222401134
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys)	rs2064912754
NM_170784.3(MKKS):c.425T>C (p.Val142Ala)	rs863224773
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)	rs1331122376
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln)	rs2122234625
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe)	rs2064901215
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe)	rs2064900976
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe)	rs2122234451
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
NM_170784.3(MKKS):c.751G>C (p.Asp251His)	rs2064900610
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile)	rs2064900423
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys)	rs764332400
NM_170784.3(MKKS):c.796G>T (p.Val266Phe)	rs2064899855
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn)	rs2064899452
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp)	rs578252932
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
NM_170784.3(MKKS):c.891A>G (p.Ile297Met)	rs2064898329
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro)	rs770619894
NM_170784.3(MKKS):c.922C>A (p.His308Asn)	rs1600848359
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
NM_170784.3(MKKS):c.94A>G (p.Ile32Val)	rs578110162
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)

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