List of variants studied for Charcot-Marie-Tooth disease type 2I

Minimum submission review status:		Collection method:
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		ClinVar version:

Total variants: 13

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HGVS	dbSNP
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	rs121913598
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353
NM_000530.8(MPZ):c.178G>C (p.Asp60His)	rs121913604
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	rs121913586
NM_000530.8(MPZ):c.600G>A (p.Gly200=)	rs16832790
NM_000530.8(MPZ):c.684C>T (p.Ser228=)	rs34307129

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