ClinVar Miner

Variants in gene MLYCD 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: 10
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) rs138675420 0.00118
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=) rs370278897 0.00055
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_012213.3(MLYCD):c.641+11C>T rs200841672 0.00019
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=) rs373675093 0.00011
NM_012213.3(MLYCD):c.741G>T (p.Gly247=) rs376948469 0.00011
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=) rs534173407 0.00003
NM_012213.3(MLYCD):c.762C>T (p.His254=) rs773274796 0.00003
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) rs200413924
NM_012213.3(MLYCD):c.984G>T (p.Leu328=) rs765416276

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