ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Invitae and "uncertain significance" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) rs374176452 0.00008
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_001098.3(ACO2):c.1927G>A (p.Val643Ile) rs387907390 0.00003
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp) rs483352725 0.00001
NM_020638.3(FGF23):c.623A>G (p.Gln208Arg) rs387907425 0.00001
NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys) rs387907418 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849

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