ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease axonal type 2P

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_001005373.4(LRSAM1):c.-316C>T rs116498902 0.01548
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001005373.4(LRSAM1):c.1044-9T>C rs59501881 0.00523
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.*57G>A rs549468112 0.00273
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.1131T>A (p.Thr377=) rs141912153 0.00078
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=) rs151323851 0.00056
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_001005373.4(LRSAM1):c.2121G>A (p.Pro707=) rs570732998 0.00049
NM_001005373.4(LRSAM1):c.350T>C (p.Met117Thr) rs201772539 0.00034
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769 0.00005
NM_001005373.4(LRSAM1):c.1353G>A (p.Ala451=) rs535634291 0.00004
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854 0.00001
NM_001005373.4(LRSAM1):c.1913-5dup
NM_001005373.4(LRSAM1):c.253-15del
NM_001005373.4(LRSAM1):c.780+9dup rs2132060965

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