ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for autosomal dominant nonsyndromic deafness 13

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) rs138045609
NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) rs727504460
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.97G>A (p.Asp33Asn)

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