ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 20 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)

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