ClinVar Miner

List of variants in gene LRSAM1 reported as likely benign for Charcot-Marie-Tooth disease axonal type 2P

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_138361.5(LRSAM1):c.1026_1027delGCinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1632G>A (p.Gln544=) rs762712712
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.267C>T (p.His89=) rs148528063
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.567G>A (p.Pro189=) rs761890031
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.840G>A (p.Glu280=) rs199947399
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533

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