ClinVar Miner

List of variants in gene PMP22 studied for Inborn genetic diseases

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000304.4(PMP22):c.268C>G (p.Leu90Val) rs147114400 0.00020
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_000304.4(PMP22):c.72C>A (p.Ile24=) rs371373574 0.00010
NM_000304.4(PMP22):c.342G>A (p.Ala114=) rs201871607 0.00004
NM_000304.4(PMP22):c.381C>T (p.Asn127=) rs369477577 0.00004
NM_000304.4(PMP22):c.365C>T (p.Pro122Leu) rs768085434 0.00003
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.100C>T (p.His34Tyr) rs756458019 0.00001
NM_000304.4(PMP22):c.206T>C (p.Met69Thr) rs104894620 0.00001
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) rs140763467 0.00001
NM_000304.4(PMP22):c.411C>T (p.Ile137=) rs752025670 0.00001
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys) rs761138676 0.00001
NM_000304.4(PMP22):c.471G>A (p.Arg157=) rs770693814 0.00001
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928 0.00001
NM_000304.4(PMP22):c.106A>G (p.Thr36Ala)
NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)
NM_000304.4(PMP22):c.179-3C>G rs1284105482
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.238C>G (p.Leu80Val)
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.366G>T (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.42G>T (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.448G>A (p.Gly150Ser)
NM_000304.4(PMP22):c.60C>A (p.Phe20Leu)
NM_000304.4(PMP22):c.78+4A>C

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