ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 3 by Invitae

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP
NC_000003.11:g.(?_97439105)_(97510809_?)dup
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) rs757995078
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys)
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg)
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)
NM_001278293.3(ARL6):c.349+4T>C
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) rs202044896
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)
NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg)
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val)
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu)
NM_001278293.3(ARL6):c.551_552del (p.Val184fs)

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