ClinVar Miner

List of variants in gene SDCCAG8 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_006642.5(SDCCAG8):c.-4G>A rs113193158
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.1474-6C>T
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=)
NM_006642.5(SDCCAG8):c.221-4A>G
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.307-10T>A
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404

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