ClinVar Miner

List of variants studied for Usher syndrome type 3 by Counsyl

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
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.254-2132C>T rs758741442 0.00003
NM_174878.3(CLRN1):c.254-2115del rs1032160668 0.00002
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.254-2057T>C rs778574679 0.00001
NM_174878.3(CLRN1):c.254-2082T>G rs963890618 0.00001
NM_174878.3(CLRN1):c.254-2111del rs1211060908 0.00001
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
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.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416

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