ClinVar Miner

List of variants in gene MPZL2 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter) rs200462584 0.00022
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
NM_005797.4(MPZL2):c.226-1G>A rs1949708829
NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)
NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs) rs2134734280
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
NM_005797.4(MPZL2):c.417del (p.Leu140fs)
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005797.4(MPZL2):c.500dup (p.Ile168fs)
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005797.4(MPZL2):c.[220C>T];[463del]

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