ClinVar Miner

List of variants in gene LRSAM1 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter) rs752177472 0.00001
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs) rs749012928 0.00001
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs) rs747130246 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter) rs1156243243 0.00001
NC_000009.11:g.(?_130229999)_(130230129_?)del
NC_000009.11:g.(?_130245209)_(130245319_?)del
NC_000009.11:g.(?_130265033)_(130265178_?)del
NC_000009.12:g.(?_127501000)_(127501153_?)del
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs) rs1834464693
NM_001005373.4(LRSAM1):c.1135_1136del (p.Ser379fs) rs2132073231
NM_001005373.4(LRSAM1):c.1333del (p.Gln445fs) rs866892723
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs) rs1588132672
NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)
NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)
NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)
NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs) rs775965001
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
NM_001005373.4(LRSAM1):c.2047-1G>A rs1564287793
NM_001005373.4(LRSAM1):c.2075_2087del (p.His692fs)
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter) rs961918637
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_001005373.4(LRSAM1):c.2108_2114del (p.Leu703fs)
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter) rs2132010730
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter) rs1168470052
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_001005373.4(LRSAM1):c.428_435dup (p.Val146fs)
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs) rs1215220865
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)

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