List of variants in gene TRPV4 studied for Skeletal dysplasia; Neuromuscular disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	rs187864727	0.00172
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)	rs387906902
NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys)	rs515726157
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	rs77975504
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	rs121912633
NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)	rs387906906
NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)	rs397514474
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	rs267607149
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)	rs121912637
NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs)	rs515726166
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	rs387906904
NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)	rs387906907
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	rs267607148

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