ClinVar Miner

List of variants in gene C8orf37 studied for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_177965.4(C8orf37):c.130C>T (p.Gln44Ter) rs751922029
NM_177965.4(C8orf37):c.240del (p.Ser81fs) rs1587357327
NM_177965.4(C8orf37):c.304A>T (p.Lys102Ter) rs766087213
NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) rs387907136
NM_177965.4(C8orf37):c.533C>T (p.Ala178Val) rs375314973

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