List of variants in gene TRPV4 reported as likely benign for Spondylometaphyseal dysplasia, Kozlowski type

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)	rs142749412	0.00016
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)	rs145102919	0.00007
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	rs138396764	0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)	rs142902080	0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)	rs148534854	0.00006
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)	rs200199102	0.00004
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)	rs377257364	0.00003
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)	rs146304351	0.00002
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)	rs373049874	0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)	rs763889344	0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)	rs545589086	0.00001

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