ClinVar Miner

List of variants in gene BAG2, RAB23 studied for RAB23-related Carpenter syndrome

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15833
NM_016277.5(RAB23):c.*3330A>G rs72868608 0.14761
NM_016277.5(RAB23):c.*2425G>A rs62415930 0.03322
NM_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
NM_016277.5(RAB23):c.*2008G>A rs549684091 0.00093
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_016277.5(RAB23):c.*2586G>A rs547766165 0.00079
NM_016277.5(RAB23):c.*722T>C rs143345846 0.00076
NM_016277.5(RAB23):c.*984G>A rs148372304 0.00034
NM_016277.5(RAB23):c.*3033C>T rs749068215 0.00029
NM_016277.5(RAB23):c.*1131C>G rs541307925 0.00016
NM_016277.5(RAB23):c.*1534T>G rs778774458 0.00016
NM_016277.5(RAB23):c.*2681G>A rs773395495 0.00016
NM_016277.5(RAB23):c.*2753G>A rs896219710 0.00014
NM_016277.5(RAB23):c.*2769C>A rs550035886 0.00011
NM_016277.5(RAB23):c.*2876T>C rs561133735 0.00011
NM_016277.5(RAB23):c.*3129G>C rs562371430 0.00011
NM_016277.5(RAB23):c.*2067A>G rs191147024 0.00004
NM_016277.5(RAB23):c.*2341C>A rs571856902 0.00004
NM_016277.5(RAB23):c.*2245T>C rs908169983 0.00001
NM_016277.5(RAB23):c.*2319T>C rs1159890588 0.00001
NM_016277.5(RAB23):c.*795G>A rs1387081917 0.00001
NM_016277.5(RAB23):c.*1052T>C rs1764744688
NM_016277.5(RAB23):c.*1494A>G rs1764724130
NM_016277.5(RAB23):c.*1536T>G rs931746824
NM_016277.5(RAB23):c.*1817A>G rs368441472
NM_016277.5(RAB23):c.*3298A>G rs1170431413
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*850A>G rs1764753710

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