ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Genome-Nilou Lab

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_002972.4(SBF1):c.3905-31T>C rs4824117 0.72013
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_002972.4(SBF1):c.1431+27G>A rs2076714 0.53065
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) rs1053744 0.52056
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) rs2651369 0.45332
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_006096.4(NDRG1):c.538-132G>C rs2272650 0.41873
NM_001370298.3(FGD4):c.1248-37T>A rs4931641 0.39058
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_002972.4(SBF1):c.56-27G>T rs9616852 0.36389
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_001370298.3(FGD4):c.2046+37A>G rs7970584 0.34437
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_006096.4(NDRG1):c.699-51A>C rs2233335 0.31793
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_002972.4(SBF1):c.3284-31C>T rs2073278 0.30661
NM_006096.4(NDRG1):c.450+61A>G rs2272651 0.29847
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_006096.4(NDRG1):c.855+148T>C rs2233339 0.26454
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001 0.20075
NM_002972.4(SBF1):c.3688+31C>T rs2281439 0.19323
NM_002972.4(SBF1):c.4087-25C>T rs2076713 0.14256
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_006096.4(NDRG1):c.698+84A>G rs11575973 0.10802
NM_002972.4(SBF1):c.55+33G>A rs149886696 0.10536
NM_006096.4(NDRG1):c.891+39C>A rs2233341 0.09513
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) rs58335489 0.08274
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) rs5771037 0.06512
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_006096.4(NDRG1):c.389+82G>T rs2233329 0.03173
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_002972.4(SBF1):c.1968+40C>A rs9617014
NM_002972.4(SBF1):c.2840-43C>G rs2073280
NM_006096.4(NDRG1):c.327-33C>T rs2233327
NM_006096.4(NDRG1):c.327-48C>G rs2233326
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030

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