ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NG_007083.1:g.371658_507674del
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))
NM_032119.3(ADGRV1):c.10060_10063delACAA (p.Thr3354Serfs) rs727504978
NM_032119.3(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.3(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.3(ADGRV1):c.14973-2A>G rs371981035
NM_032119.3(ADGRV1):c.1608C>G (p.Tyr536Ter)
NM_032119.3(ADGRV1):c.1701delC (p.Leu568Cysfs) rs876657695
NM_032119.3(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.3(ADGRV1):c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs) rs727504644
NM_032119.3(ADGRV1):c.17662delT (p.Ser5888Hisfs) rs397517426
NM_032119.3(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.3(ADGRV1):c.18732_18750del (p.Tyr6244Terfs) rs796051865
NM_032119.3(ADGRV1):c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) rs796051866
NM_032119.3(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.3(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.3(ADGRV1):c.5357_5358del (p.Lys1786Ilefs) rs796051867
NM_032119.3(ADGRV1):c.5643delG (p.Tyr1882Ilefs) rs727503076
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.3(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.3(ADGRV1):c.7374_7375delTG (p.Glu2459Glyfs) rs397517435
NM_032119.3(ADGRV1):c.7406G>A (p.Trp2469Ter) rs397517436
NM_032119.3(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_032119.3(ADGRV1):c.8737delG (p.Val2913Tyrfs) rs397517441
NM_032119.3(ADGRV1):c.8790del (p.Met2931Trpfs) rs796051864
NM_032119.3(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del
NM_032119.4(ADGRV1):c.11122-1G>C
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.2870dup (p.Asn957Lysfs) rs397517429
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928Argfs) rs730880369
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906Lysfs) rs796051863

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