List of variants in gene ACVR2B reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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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.1344+7G>T	rs9876823	0.01406
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.1344+277G>C	rs7372849

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