ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 2C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001195263.1(PDZD7):c.878G>A (p.Arg293Gln) rs368026275
NM_032119.3(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004
NM_032119.3(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083
NM_032119.3(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253
NM_032119.3(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204
NM_032119.3(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.3(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457
NM_032119.3(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446
NM_032119.3(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875
NM_032119.3(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429
NM_032119.3(ADGRV1):c.4108T>G (p.Phe1370Val)
NM_032119.3(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394
NM_032119.3(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.3(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659
NM_032119.3(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779
NM_032119.3(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys)
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter)
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn)
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys)
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750

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