ClinVar Miner

List of variants in gene TRPV4 reported as likely benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736

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