ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 6

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys) rs74315396
NM_170784.2(MKKS):c.119C>G (p.Ser40Ter) rs753338844
NM_170784.2(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.2(MKKS):c.155G>A (p.Gly52Asp) rs28937875
NM_170784.2(MKKS):c.169A>G (p.Thr57Ala) rs74315399
NM_170784.2(MKKS):c.281del (p.Phe94Serfs) rs587777827
NM_170784.2(MKKS):c.792T>A (p.Tyr264Ter) rs74315397

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