List of variants in gene LOC107303340, VHL studied for benign neoplasm

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.340+578C>T	rs139622356	0.00064
NM_000551.4(VHL):c.420C>A (p.Leu140=)	rs369465430	0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	rs5030824	0.00004
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	rs561874453	0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His)	rs777130107	0.00003
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	rs1057517560	0.00002
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	rs375401722	0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)	rs878854125	0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=)	rs143594610	0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	rs1553620389	0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His)	rs1696367993	0.00001
NM_000551.4(VHL):c.340+714G>A	rs1054796088
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	rs1060503565
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	rs869025650
NM_000551.4(VHL):c.463+3A>G	rs1131690954
NM_000551.4(VHL):c.463+9G>A	rs1057522720
NM_000551.4(VHL):c.464-2A>G	rs5030816
NM_000551.4(VHL):c.479A>T (p.Glu160Val)	rs864321641
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	rs1553620326
NM_000551.4(VHL):c.509T>C (p.Val170Ala)	rs864321642
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)	rs1470394966
NM_000551.4(VHL):c.530_536del (p.Arg177fs)	rs1575932266
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)	rs5030823
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000551.4(VHL):c.588dup (p.Asp197fs)	rs864321640

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