ClinVar Miner

List of variants reported as uncertain significance for perceptual disorders by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg) rs200198786 0.00001
NM_004523.4(KIF11):c.1677G>A (p.Met559Ile) rs750869480 0.00001
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr) rs1569026431
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) rs1443299574

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