ClinVar Miner

List of variants reported as uncertain significance for H syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.*379A>G rs6650127 0.00646
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) rs147701543 0.00043
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) rs138640615 0.00033
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) rs199861210 0.00022
NM_018344.6(SLC29A3):c.*603A>G rs886047120 0.00019
NM_018344.6(SLC29A3):c.-23C>T rs771479944 0.00016
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367 0.00016
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056 0.00014
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) rs146423891 0.00011
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) rs768974539 0.00007
NM_018344.6(SLC29A3):c.*318C>T rs527551448 0.00006
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) rs180984559 0.00004
NM_018344.6(SLC29A3):c.*403C>T rs376297355 0.00003
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) rs746998307 0.00003
NM_018344.6(SLC29A3):c.-31G>C rs886047116 0.00002
NM_018344.6(SLC29A3):c.*111A>G rs768698488 0.00001
NM_018344.6(SLC29A3):c.*220A>G rs753584878 0.00001
NM_018344.6(SLC29A3):c.*485G>A rs886047118 0.00001
NM_018344.6(SLC29A3):c.*557A>C rs886047119 0.00001
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) rs374417695 0.00001
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) rs1013295413 0.00001
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) rs757865136 0.00001
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) rs142991278 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) rs556688985 0.00001
NM_018344.6(SLC29A3):c.*11A>C rs776790087
NM_018344.6(SLC29A3):c.*321C>G rs1847107596
NM_018344.6(SLC29A3):c.*353C>A rs886047117
NM_018344.6(SLC29A3):c.*657dup rs564371527
NM_018344.6(SLC29A3):c.*744G>A rs147202397
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) rs1847078623
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=) rs752027628
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)

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