ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300

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