ClinVar Miner

List of variants reported as pathogenic for H syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 0.00006
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) rs121912583 0.00002
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) rs387907066 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000010.10:g.(?_73111299)_(73122365_?)del
NC_000010.10:g.(?_73115818)_(73116020_?)del
NC_000010.10:g.(?_73121691)_(73122365_?)del
NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs) rs2131796660
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) rs869025176
NM_018344.6(SLC29A3):c.1077_1084del (p.Asp359fs)
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) rs749946303
NM_018344.6(SLC29A3):c.1294del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1295del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) rs377762611
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) rs1223982382
NM_018344.6(SLC29A3):c.300+2T>C rs2131797156
NM_018344.6(SLC29A3):c.382_383del (p.Arg128fs)
NM_018344.6(SLC29A3):c.443del (p.Val148fs) rs2131839011
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) rs776960135
NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)
NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)
NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)
NM_018344.6(SLC29A3):c.919dup (p.Ser307fs)
NM_018344.6(SLC29A3):c.963del (p.Ile322fs) rs2131851477
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) rs1415833135

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