ClinVar Miner

List of variants reported as uncertain significance for congenital pulmonary veins anomaly

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.*309_*310insT rs11392376 0.46626
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_001127392.3(MYRF):c.2201C>T (p.Ala734Val) rs399122 0.00012
NM_001127392.3(MYRF):c.1063C>T (p.Pro355Ser) rs200349251 0.00011
NM_001451.3(FOXF1):c.636G>C (p.Ser212=) rs776649998 0.00001
NM_014391.3(ANKRD1):c.710A>G (p.His237Arg) rs145326465 0.00001
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
GRCh38/hg38 3q24(chr3:143944349-143982303)
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
GRCh38/hg38 9p24.3(chr9:46587-273160)
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
GRCh38/hg38 Xq28(chrX:153151471-153250484)
NM_001451.3(FOXF1):c.*1176del rs397854726
NM_001451.3(FOXF1):c.*123dup rs886052379
NM_001451.3(FOXF1):c.*1298dup rs886052386
NM_001451.3(FOXF1):c.*310_*311insT rs67178865
NM_001451.3(FOXF1):c.*471_*472dup rs56130003
NM_001451.3(FOXF1):c.-2C>T rs1969543882
NM_001451.3(FOXF1):c.1070A>T (p.His357Leu)
NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)
NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)
NM_001451.3(FOXF1):c.60_62del (p.Gly23del) rs757668134
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
Single allele

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