ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (92):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794 0.01210
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057 0.00161
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=) rs138490175 0.00054
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029 0.00004
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235 0.00001
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) rs143032564 0.00001
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
NM_015271.5(TRIM2):c.1903A>C (p.Ile635Leu) rs142179342

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