ClinVar Miner

List of variants studied for Usher syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.4997_4998GT[2] (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.849+5G>A rs1060499716
NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_007123.5(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_206933.3(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9372-1G>A rs1558111861
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867

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