ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 6

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_170784.3(MKKS):c.-159A>G rs566532177 0.00137
NM_170784.3(MKKS):c.-384C>T rs568811798 0.00099
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met) rs554863155 0.00064
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr) rs536112369 0.00064
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg) rs145467994 0.00041
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
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.*112C>T rs551220022 0.00017
NM_170784.3(MKKS):c.-477G>T rs886056501 0.00016
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00014
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_170784.3(MKKS):c.*21A>G rs532973454 0.00009
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.*460T>C rs886056496 0.00006
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.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 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.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.*103A>G rs965771888 0.00001
NM_170784.3(MKKS):c.-22A>C rs531656259 0.00001
NM_170784.3(MKKS):c.-388A>G rs945662294 0.00001
NM_170784.3(MKKS):c.-481T>A rs886056502 0.00001
NM_170784.3(MKKS):c.-562C>T rs886056503 0.00001
NM_170784.3(MKKS):c.-649+2366C>T rs886056504 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.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.-159A>C rs566532177
NM_170784.3(MKKS):c.-21C>G rs886056498
NM_170784.3(MKKS):c.-39A>C rs886056499
NM_170784.3(MKKS):c.-406G>C rs886056500
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
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.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) rs2064834350
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.329G>T (p.Gly110Val) rs2064907691
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_170784.3(MKKS):c.82G>C (p.Val28Leu) rs368653529

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