ClinVar Miner

List of variants studied for autosomal recessive disease by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) rs767822498 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_206933.4(USH2A):c.12067-1G>A rs397517977 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) rs1276890742
NM_032119.4(ADGRV1):c.9748+2T>C rs1580864592
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) rs1576651623
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6657+1G>A rs1571876788

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