ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_004862.3(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_006096.3(NDRG1):c.64-6T>C rs2272653
NM_014629.3(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.3(ARHGEF10):c.2143+13T>G rs2294041
NM_014629.3(ARHGEF10):c.3398-16A>G rs7832438
NM_014629.3(ARHGEF10):c.387A>G (p.Val129=) rs749822
NM_014629.3(ARHGEF10):c.630G>A (p.Glu210=) rs7003969
NM_016156.5(MTMR2):c.1131C>T (p.Thr377=) rs566204
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110

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