ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_153609.3(TMPRSS6):c.*140C>T rs886057491
NM_153609.3(TMPRSS6):c.*303T>G rs886057490
NM_153609.3(TMPRSS6):c.*35T>C rs199957731
NM_153609.3(TMPRSS6):c.*499C>T rs560949530
NM_153609.3(TMPRSS6):c.*503C>G rs117575523
NM_153609.3(TMPRSS6):c.*576C>A rs139014458
NM_153609.3(TMPRSS6):c.1000+11del rs780218999
NM_153609.3(TMPRSS6):c.1019C>T (p.Thr340Met) rs185482276
NM_153609.3(TMPRSS6):c.1096T>C (p.Cys366Arg) rs886057492
NM_153609.3(TMPRSS6):c.1224-4C>G rs529716198
NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=) rs146266448
NM_153609.3(TMPRSS6):c.1365G>A (p.Ser455=) rs776737568
NM_153609.3(TMPRSS6):c.1468+10C>T rs79816125
NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu) rs138915369
NM_153609.3(TMPRSS6):c.154C>T (p.Arg52Cys) rs750274321
NM_153609.3(TMPRSS6):c.15C>T (p.Phe5=) rs115270691
NM_153609.3(TMPRSS6):c.1654G>A (p.Asp552Asn) rs76970337
NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr) rs745388319
NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp) rs773272073
NM_153609.3(TMPRSS6):c.2085C>G (p.Phe695Leu) rs375189210
NM_153609.3(TMPRSS6):c.2132G>T (p.Arg711Leu) rs115310908
NM_153609.3(TMPRSS6):c.2154C>T (p.Asn718=) rs143878335
NM_153609.3(TMPRSS6):c.270C>A (p.Gly90=) rs147397866
NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=) rs375681801
NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys) rs752163489
NM_153609.3(TMPRSS6):c.616+9T>C rs377665035
NM_153609.3(TMPRSS6):c.659-8C>T rs375234781
NM_153609.3(TMPRSS6):c.720C>T (p.His240=) rs769301726
NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu) rs201148397
NM_153609.3(TMPRSS6):c.909G>A (p.Ala303=) rs370192027
NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs) rs1569012596

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