List of variants reported as uncertain significance for McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 by Fulgent Genetics, Fulgent Genetics

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Total variants: 80

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HGVS	dbSNP	gnomAD frequency
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.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.121G>C (p.Gly41Arg)	rs766132697	0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)	rs141181516	0.00006
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn)	rs776107451	0.00004
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)	rs368277209	0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)	rs779042065	0.00004
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)	rs113032343	0.00004
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)	rs745728640	0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His)	rs138111422	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.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.1075C>T (p.His359Tyr)	rs1414454066	0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)	rs1029793006	0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)	rs776235071	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.31T>A (p.Leu11Met)	rs1443376346	0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr)	rs148221053	0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg)	rs1303349629	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.917A>G (p.Asn306Ser)	rs1412422841	0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr)	rs370219365	0.00001
NM_170784.3(MKKS):c.1051T>C (p.Cys351Arg)
NM_170784.3(MKKS):c.1097A>G (p.Asn366Ser)
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)	rs144892179
NM_170784.3(MKKS):c.1130A>C (p.Asn377Thr)
NM_170784.3(MKKS):c.1161+5G>A
NM_170784.3(MKKS):c.1272+10A>G
NM_170784.3(MKKS):c.1279A>G (p.Asn427Asp)
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)	rs746696111
NM_170784.3(MKKS):c.1426C>T (p.His476Tyr)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile)	rs1568662701
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)	rs142327258
NM_170784.3(MKKS):c.1487A>G (p.Gln496Arg)
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1571G>A (p.Ser524Asn)
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile)	rs1239900206
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del)	rs2122219438
NM_170784.3(MKKS):c.160G>A (p.Val54Met)
NM_170784.3(MKKS):c.1613C>A (p.Thr538Asn)
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly)	rs149095209
NM_170784.3(MKKS):c.1643G>A (p.Gly548Asp)
NM_170784.3(MKKS):c.206T>C (p.Val69Ala)
NM_170784.3(MKKS):c.235G>A (p.Ala79Thr)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)	rs776936558
NM_170784.3(MKKS):c.314A>G (p.Asn105Ser)
NM_170784.3(MKKS):c.32T>C (p.Leu11Ser)
NM_170784.3(MKKS):c.406T>C (p.Cys136Arg)
NM_170784.3(MKKS):c.460G>C (p.Val154Leu)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.46C>A (p.Pro16Thr)
NM_170784.3(MKKS):c.475A>T (p.Thr159Ser)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)	rs1331122376
NM_170784.3(MKKS):c.629T>G (p.Ile210Arg)
NM_170784.3(MKKS):c.658A>G (p.Ile220Val)
NM_170784.3(MKKS):c.658A>T (p.Ile220Phe)
NM_170784.3(MKKS):c.721G>T (p.Val241Leu)
NM_170784.3(MKKS):c.79T>G (p.Ser27Ala)
NM_170784.3(MKKS):c.812C>T (p.Ala271Val)	rs772754363
NM_170784.3(MKKS):c.843G>C (p.Arg281Ser)
NM_170784.3(MKKS):c.868C>G (p.Leu290Val)
NM_170784.3(MKKS):c.952G>A (p.Val318Met)
NM_170784.3(MKKS):c.986G>T (p.Gly329Val)

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