ClinVar Miner

List of variants studied for Usher syndrome type 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.*315C>T rs1456138 0.76689
NM_174878.3(CLRN1):c.*372C>T rs4680058 0.76596
NM_001195794.1(CLRN1):c.-71A>G rs3796240 0.48434
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_174878.3(CLRN1):c.*884A>C rs12635299 0.08952
NM_174878.3(CLRN1):c.*964C>T rs16863066 0.03941
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_174878.3(CLRN1):c.*298T>C rs769104257 0.00900
NM_001195794.1(CLRN1):c.-289G>A rs55842922 0.00630
NM_174878.3(CLRN1):c.*1027T>G rs147434424 0.00493
NM_174878.3(CLRN1):c.*1191T>C rs113817098 0.00396
NM_001195794.1(CLRN1):c.-91C>T rs73155722 0.00135
NM_174878.3(CLRN1):c.*93T>C rs567265508 0.00128
NM_174878.3(CLRN1):c.*275A>G rs570356810 0.00087
NM_174878.3(CLRN1):c.*115G>A rs182501934 0.00041
NM_174878.3(CLRN1):c.*835G>T rs558161150 0.00029
NM_174878.3(CLRN1):c.*425G>A rs778645950 0.00024
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_174878.3(CLRN1):c.*1038G>A rs201534956 0.00022
NM_174878.3(CLRN1):c.*856G>A rs748935256 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) rs140094683 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_174878.3(CLRN1):c.*90A>G rs780643561 0.00009
NM_174878.3(CLRN1):c.*9C>G rs201624666 0.00009
NM_174878.3(CLRN1):c.*1039A>T rs200446881 0.00007
NM_174878.3(CLRN1):c.*1181T>C rs775798558 0.00007
NM_174878.3(CLRN1):c.*1330T>C rs374292166 0.00007
NM_174878.3(CLRN1):c.*1331C>T rs763746069 0.00006
NM_174878.3(CLRN1):c.*249G>A rs528690106 0.00006
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) rs3796241 0.00005
NM_174878.3(CLRN1):c.*1032T>C rs564545961 0.00004
NM_174878.3(CLRN1):c.*1165C>G rs769315815 0.00003
NM_174878.3(CLRN1):c.*307G>T rs886058091 0.00003
NM_001195794.1(CLRN1):c.-274A>C rs886058092 0.00002
NM_001195794.1(CLRN1):c.-141C>T rs769902137 0.00001
NM_001195794.1(CLRN1):c.-82T>C rs778235601 0.00001
NM_174878.3(CLRN1):c.*815T>C rs1397342628 0.00001
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly) rs369185342 0.00001
NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) rs780412161 0.00001
NM_001195794.1(CLRN1):c.-186A>G rs1715627039
NM_001195794.1(CLRN1):c.-229A>G rs575451901
NM_174878.3(CLRN1):c.*1262G>A rs1477382233
NM_174878.3(CLRN1):c.*277G>A rs200685524
NM_174878.3(CLRN1):c.*537T>C rs1712862411
NM_174878.3(CLRN1):c.*592G>C rs750506543
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) rs903439082
NM_174878.3(CLRN1):c.411G>A (p.Leu137=) rs1713844994
NM_174878.3(CLRN1):c.434-3C>A rs1712938572

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