ClinVar Miner

List of variants in gene ACVR2B studied for not provided

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001106.4(ACVR2B):c.959+108C>T rs4407366 0.60541
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_001106.4(ACVR2B):c.1344+260A>G rs7373828 0.45882
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_001106.4(ACVR2B):c.1075-194G>T rs4679053 0.42273
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_001106.4(ACVR2B):c.52+200C>T rs3749386 0.38720
NM_001106.4(ACVR2B):c.1344+143G>C rs73065216 0.21924
NM_001106.4(ACVR2B):c.1345-266C>T rs503327 0.06999
NM_001106.4(ACVR2B):c.811-168C>T rs28619020 0.06978
NM_001106.4(ACVR2B):c.811-73C>T rs76343599 0.03443
NM_001106.4(ACVR2B):c.960-72T>C rs77120320 0.02876
NM_001106.4(ACVR2B):c.1344+287C>G rs78041404 0.02867
NM_001106.4(ACVR2B):c.1344+35G>A rs77316668 0.01994
NM_001106.4(ACVR2B):c.993C>T (p.Ser331=) rs2228012 0.00761
NM_001106.4(ACVR2B):c.666+5G>A rs187763364 0.00760
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_001106.4(ACVR2B):c.*4565A>G rs139385924 0.00466
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) rs146067304 0.00017
NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) rs201686292 0.00004
NM_001106.4(ACVR2B):c.1068C>T (p.His356=) rs564946664 0.00001
NM_001106.4(ACVR2B):c.879G>A (p.Thr293=) rs371729222 0.00001
NM_001106.4(ACVR2B):c.*342TTGT[1] rs559626026
NM_001106.4(ACVR2B):c.1101T>C (p.Pro367=)
NM_001106.4(ACVR2B):c.1344+277G>C rs7372849
NM_001106.4(ACVR2B):c.177C>T (p.Cys59=) rs1575587194
NM_001106.4(ACVR2B):c.666+10T>C rs1575587974

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