ClinVar Miner

List of variants reported as uncertain significance for corneal dystrophy by Invitae

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg) rs189849720 0.00054
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly) rs142097284 0.00046
NM_021615.5(CHST6):c.944G>A (p.Arg315His) rs140618049 0.00035
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser) rs201349198 0.00028
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln) rs139042144 0.00025
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) rs750027288 0.00011
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala) rs150880663 0.00008
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe) rs756399261 0.00005
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro) rs760172031 0.00004
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu) rs751005101 0.00001
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro) rs763075517 0.00001
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys) rs369592422
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro) rs1438351052
NM_021615.5(CHST6):c.196G>C (p.Val66Leu) rs72547547
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn) rs2151666243
NM_021615.5(CHST6):c.323A>T (p.Asp108Val)
NM_021615.5(CHST6):c.355G>C (p.Asp119His) rs2080111143
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr) rs745598168
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)
NM_021615.5(CHST6):c.532T>G (p.Phe178Val) rs1567409280
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)

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