ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
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_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_181882.2(PRX):c.1546C>T (p.Arg516Trp) rs144305922
NM_181882.2(PRX):c.3769G>A (p.Gly1257Arg) rs200332462

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