List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4 by Baylor Genetics

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	rs139192433	0.00108
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)	rs147869659	0.00084
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)	rs147772705	0.00048
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)	rs148468522	0.00048
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)	rs140307699	0.00047
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)	rs149873249	0.00032
NM_014845.6(FIG4):c.2460-8A>G	rs201965891	0.00022
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)	rs757322355	0.00019
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	rs199863083	0.00011
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)	rs763294661	0.00010
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	rs144305922	0.00008
NM_006096.4(NDRG1):c.537+18C>T	rs779638529	0.00006
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)	rs1386270581	0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	rs368827070	0.00006
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)	rs372280596	0.00006
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)	rs370715026	0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)	rs140811185	0.00005
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu)	rs374194474	0.00004
NM_002972.4(SBF1):c.2763A>G (p.Ala921=)	rs754332334	0.00003
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	rs758614032	0.00003
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)	rs752593001	0.00002
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)	rs375414729	0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)	rs746542104	0.00001
NM_181882.3(PRX):c.1184C>T (p.Thr395Ile)	rs1273087776	0.00001
NM_000188.3(HK1):c.1871dup (p.Ala625fs)	rs754451671
NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg)	rs1180199698
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu)	rs1836501449
NM_014845.6(FIG4):c.394A>G (p.Met132Val)
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)	rs1753764451
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)	rs1434453673
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)	rs1754317705
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)	rs1228676321
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)	rs1334739235

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