ClinVar Miner

List of variants in gene combination BMPR1A, LOC130004245 reported as uncertain significance for Generalized juvenile polyposis/juvenile polyposis coli

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.-473G>A rs886047357 0.00012
NM_004329.3(BMPR1A):c.-336C>T rs371471802 0.00007
NM_004329.3(BMPR1A):c.-468G>A rs1230247470 0.00001
NM_004329.3(BMPR1A):c.-500A>C rs1027922647 0.00001
NM_004329.3(BMPR1A):c.-534G>A rs1257043581 0.00001
NM_004329.3(BMPR1A):c.-287A>G rs730881438
NM_004329.3(BMPR1A):c.-314C>T rs1589700298
NM_004329.3(BMPR1A):c.-447T>C rs886047358

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