ClinVar Miner

List of variants studied for RAB23-related Carpenter syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_004282.4(BAG2):c.*4565A>G rs11969200 0.00198
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_004282.4(BAG2):c.*5594A>G rs375855440 0.00093
NM_004282.4(BAG2):c.*3082A>G rs139222657 0.00086
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_004282.4(BAG2):c.*5287C>T rs148372304 0.00034
NM_004282.4(BAG2):c.*3238G>A rs749068215 0.00029
NM_004282.4(BAG2):c.*3590C>T rs773395495 0.00016
NM_004282.4(BAG2):c.*4737A>C rs778774458 0.00016
NM_004282.4(BAG2):c.*5140G>C rs541307925 0.00016
NM_004282.4(BAG2):c.*3518C>T rs896219710 0.00014
NM_004282.4(BAG2):c.*3142C>G rs562371430 0.00011
NM_004282.4(BAG2):c.*3395A>G rs561133735 0.00011
NM_004282.4(BAG2):c.*3502G>T rs550035886 0.00011
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_016277.5(RAB23):c.-49C>T rs45474592 0.00003
NM_004282.4(BAG2):c.*3952A>G rs1159890588 0.00001
NM_004282.4(BAG2):c.*4026A>G rs908169983 0.00001
NM_004282.4(BAG2):c.*5476C>T rs1387081917 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_004282.4(BAG2):c.*2973T>C rs1170431413
NM_004282.4(BAG2):c.*4454T>C rs368441472
NM_004282.4(BAG2):c.*4735A>C rs931746824
NM_004282.4(BAG2):c.*4777T>C rs1764724130
NM_004282.4(BAG2):c.*5219A>G rs1764744688
NM_004282.4(BAG2):c.*5421T>C rs1764753710
NM_004282.4(BAG2):c.*5536A>C rs886061652
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952

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