ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2Y

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007126.5(VCP):c.1360-35A>G rs2258240 0.75740
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_007126.5(VCP):c.129+47G>A rs10972300 0.17835
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
NM_007126.5(VCP):c.961G>A (p.Glu321Lys)

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