ClinVar Miner

Variants in gene MTR 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: 13
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132

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