ClinVar Miner

List of variants studied for Usher syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_033056.4(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8681+1G>A rs876657733
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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