ClinVar Miner

List of variants in gene COL6A3, LOC122889011 studied for Ullrich congenital muscular dystrophy 1A

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.6283-2A>C rs797044988
NM_004369.4(COL6A3):c.6283-2A>G rs797044988
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004369.4(COL6A3):c.6309+3A>C
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_004369.4(COL6A3):c.6310-2A>G rs1559225993

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