ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Z by Genome-Nilou Lab

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001303256.3(MORC2):c.96C>T (p.Ala32=) rs737924 0.40756
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=) rs3747151 0.39939
NM_001303256.3(MORC2):c.378C>G (p.Thr126=) rs2072132 0.29850
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204 0.05416
NM_001303256.3(MORC2):c.699-20T>C rs78973434 0.01322
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 0.00436
NM_001303256.3(MORC2):c.1737+4C>T rs5997814 0.00421
NM_001303256.3(MORC2):c.158-12del rs66613527 0.00343
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491 0.00078
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_001303256.3(MORC2):c.2193+15C>T rs201301518 0.00055
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00047
NM_001303256.3(MORC2):c.3030+9G>C rs200086094 0.00022
NM_001303256.3(MORC2):c.894A>G (p.Val298=) rs562612569 0.00001

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