ClinVar Miner

List of variants in gene USH2A reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu) rs1472714005
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.2810-1G>A rs778336512
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs) rs2102549174
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys) rs1026326311
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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