List of variants in gene combination ACTC1, GJD2-DT reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)	rs397517057	0.00004
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)	rs750951965	0.00002
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val)	rs397517056	0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	rs121912676	0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)	rs727505179	0.00001
NM_005159.5(ACTC1):c.*3T>C	rs727504415
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val)	rs727505192
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter)	rs876657738
NM_005159.5(ACTC1):c.186del (p.Ser62fs)	rs876657739
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)	rs397517059
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln)	rs397517060
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)	rs397517061
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)	rs727504308
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn)	rs397517063
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)	rs1555418829
NM_005159.5(ACTC1):c.616+1G>A	rs111904141
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)	rs397517067
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter)	rs1060499837
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser)	rs727505330
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)	rs371940910
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)	rs727504399
NM_005159.5(ACTC1):c.7G>C (p.Asp3His)	rs397517069
NM_005159.5(ACTC1):c.808+3G>A	rs397517070
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)	rs397517072
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)	rs397517073
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr)	rs869025354

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