ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 3 by Counsyl

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.254-2115del rs1032160668 0.00002
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.254-2081G>A rs780023517
NM_174878.3(CLRN1):c.254-2099_254-2086del rs1553772861
NM_174878.3(CLRN1):c.254-2189dup rs1553772899
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929

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