ClinVar Miner

Variants in gene TNNI3 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp) rs760978512 0.00004
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter) rs1057521530 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val) rs727504367
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365

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