ClinVar Miner

Variants in gene MMUT with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) rs150095448 0.00024
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267 0.00001
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149 0.00001
NM_000255.4(MMUT):c.1659G>A (p.Val553=) rs764316430 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001

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