ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 6

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NM_018848.3(MKKS):c.*21A>G rs532973454
NM_018848.3(MKKS):c.*38A>G rs79940214
NM_018848.3(MKKS):c.*392T>C rs2294901
NM_018848.3(MKKS):c.*435G>A rs6108549
NM_018848.3(MKKS):c.*460T>C rs886056496
NM_018848.3(MKKS):c.*46G>T rs74703166
NM_018848.3(MKKS):c.-159A>G rs566532177
NM_018848.3(MKKS):c.-21C>G rs886056498
NM_018848.3(MKKS):c.-22A>C rs531656259
NM_018848.3(MKKS):c.-306A>G rs3748466
NM_018848.3(MKKS):c.-349A>G rs140884406
NM_018848.3(MKKS):c.-39A>C rs886056499
NM_018848.3(MKKS):c.-406G>C rs886056500
NM_018848.3(MKKS):c.-477G>T rs886056501
NM_018848.3(MKKS):c.-481T>A rs886056502
NM_018848.3(MKKS):c.-495C>A rs536112369
NM_018848.3(MKKS):c.-496T>G rs554863155
NM_018848.3(MKKS):c.-557A>G rs145467994
NM_018848.3(MKKS):c.-562C>T rs886056503
NM_018848.3(MKKS):c.-58T>C rs114068950
NM_018848.3(MKKS):c.-649+6T>G rs377246386
NM_018848.3(MKKS):c.-707C>T rs886056504
NM_018848.3(MKKS):c.-835A>T rs541967798
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844
NM_018848.3(MKKS):c.1269C>T (p.His423=) rs144313303
NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_018848.3(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_018848.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_018848.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_018848.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_018848.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_018848.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_018848.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018848.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_018848.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395
NM_018848.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599
NM_018848.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_018848.3(MKKS):c.874C>T (p.Leu292=) rs758645426
NM_170784.2(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.*103A>G
NM_170784.3(MKKS):c.*112C>T
NM_170784.3(MKKS):c.-159A>C
NM_170784.3(MKKS):c.-384C>T
NM_170784.3(MKKS):c.-388A>G
NM_170784.3(MKKS):c.-618C>T
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)
NM_170784.3(MKKS):c.1645C>T (p.Leu549=)
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)
NM_170784.3(MKKS):c.180C>T (p.Ser60=)
NM_170784.3(MKKS):c.329G>T (p.Gly110Val)

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