ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital ichthyosis by Natera, Inc.

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.252C>T (p.Gly84=) rs148048398 0.00066
NM_000359.3(TGM1):c.-181G>A rs535043603 0.00061
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000359.3(TGM1):c.245C>T (p.Ser82Phe) rs141792428 0.00044
NM_000359.3(TGM1):c.519C>T (p.Pro173=) rs139811103 0.00028
NM_000359.3(TGM1):c.831C>T (p.Tyr277=) rs559847457 0.00026
NM_000359.3(TGM1):c.463C>T (p.Arg155Trp) rs187901859 0.00016
NM_000359.3(TGM1):c.2221G>A (p.Val741Ile) rs141864003 0.00015
NM_000359.3(TGM1):c.2394C>T (p.Asp798=) rs201811993 0.00011
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln) rs201328637 0.00011
NM_000359.3(TGM1):c.100C>T (p.Arg34Cys) rs149148326 0.00010
NM_000359.3(TGM1):c.2029G>A (p.Gly677Arg) rs758380663 0.00010
NM_000359.3(TGM1):c.891G>A (p.Val297=) rs768880844 0.00009
NM_000359.3(TGM1):c.1967G>A (p.Arg656Gln) rs369173679 0.00007
NM_000359.3(TGM1):c.604G>A (p.Gly202Arg) rs141685762 0.00007
NM_000359.3(TGM1):c.1216G>A (p.Asp406Asn) rs200050519 0.00006
NM_000359.3(TGM1):c.1062G>A (p.Ala354=) rs758437844 0.00005
NM_000359.3(TGM1):c.*2C>T rs372231860 0.00004
NM_000359.3(TGM1):c.1143T>G (p.Ala381=) rs149449576 0.00004
NM_000359.3(TGM1):c.2377G>A (p.Gly793Arg) rs188646084 0.00004
NM_000359.3(TGM1):c.765T>C (p.Ile255=) rs372360509 0.00004
NM_000359.3(TGM1):c.1473G>A (p.Thr491=) rs187372624 0.00003
NM_000359.3(TGM1):c.2220C>T (p.Asn740=) rs554951371 0.00002
NM_000359.3(TGM1):c.266G>A (p.Arg89Gln) rs141492969 0.00002
NM_000359.3(TGM1):c.638C>G (p.Pro213Arg) rs757888791 0.00002
NM_000359.3(TGM1):c.771C>T (p.Tyr257=) rs141590446 0.00002
NM_000359.3(TGM1):c.876+9C>T rs746777441 0.00002
NM_000359.3(TGM1):c.1081A>G (p.Ile361Val) rs757682828 0.00001
NM_000359.3(TGM1):c.1209C>T (p.Ser403=) rs1223911289 0.00001
NM_000359.3(TGM1):c.1840C>T (p.Leu614Phe) rs770201228 0.00001
NM_000359.3(TGM1):c.2185G>A (p.Glu729Lys) rs745826502 0.00001
NM_000359.3(TGM1):c.555G>A (p.Val185=) rs753181868 0.00001
NM_000359.3(TGM1):c.-183_-182insT rs2040830067
NM_000359.3(TGM1):c.1102A>G (p.Thr368Ala) rs2040783201
NM_000359.3(TGM1):c.1227A>C (p.Thr409=) rs769098662
NM_000359.3(TGM1):c.1234A>G (p.Thr412Ala) rs2040777941
NM_000359.3(TGM1):c.1338G>A (p.Pro446=) rs776701915
NM_000359.3(TGM1):c.1492-5C>T rs201484627
NM_000359.3(TGM1):c.1492-6C>T rs1043976771
NM_000359.3(TGM1):c.1754C>T (p.Ala585Val) rs2040738382
NM_000359.3(TGM1):c.1820G>C (p.Arg607Pro) rs774708318
NM_000359.3(TGM1):c.1905A>C (p.Glu635Asp) rs547689240
NM_000359.3(TGM1):c.2184C>T (p.Leu728=) rs772044077
NM_000359.3(TGM1):c.2243A>G (p.Glu748Gly) rs1205750292
NM_000359.3(TGM1):c.2441G>C (p.Arg814Pro) rs747705778
NM_000359.3(TGM1):c.350T>C (p.Leu117Ser) rs1483848337
NM_000359.3(TGM1):c.445A>G (p.Met149Val) rs2040810906
NM_000359.3(TGM1):c.464G>C (p.Arg155Pro) rs374574340
NM_000359.3(TGM1):c.509-331G>A rs1466743422
NM_000359.3(TGM1):c.509-7A>G rs1594572917
NM_000359.3(TGM1):c.772G>A (p.Val258Met) rs771471341
NM_000359.3(TGM1):c.937G>A (p.Gly313Arg) rs2040790525
NM_000359.3(TGM1):c.96C>T (p.Asp32=) rs151333205

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