ClinVar Miner

List of variants in gene combination BAG2, RAB23 reported as uncertain significance for RAB23-related Carpenter syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
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_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 0.00004
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_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

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