ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic deafness 13

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 11
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NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_080679.2(COL11A2):c.2102G>A (p.Gly701Glu) rs121912948
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
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.3814C>T (p.Arg1272Ter) rs121912950
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.97G>A (p.Asp33Asn)

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