List of variants in gene RAB7A studied for Charcot-Marie-Tooth disease

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004637.6(RAB7A):c.219C>T (p.Leu73=)	rs4548	0.04279
NM_004637.6(RAB7A):c.423C>G (p.Ala141=)	rs61758751	0.00210
NM_004637.6(RAB7A):c.87G>A (p.Val29=)	rs145441548	0.00039
NM_004637.6(RAB7A):c.180+9A>G	rs762831187	0.00006
NM_004637.6(RAB7A):c.183A>C (p.Ile61=)	rs376642691	0.00002
NM_004637.6(RAB7A):c.21G>A (p.Val7=)	rs140857794	0.00001
NM_004637.6(RAB7A):c.321C>T (p.Leu107=)	rs749227632	0.00001
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)	rs1933806198
NM_004637.6(RAB7A):c.331del (p.Ser111fs)	rs1576303712
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)	rs121909078
NM_004637.6(RAB7A):c.400-17C>G	rs762146227
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn)	rs121909081
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr)	rs121909080
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)	rs121909080
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)	rs121909079

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