List of variants in gene PDGFB studied for not provided

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: 135

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HGVS	dbSNP	gnomAD frequency
NM_002608.4(PDGFB):c.160+236A>G	rs879180	0.77817
NM_002608.4(PDGFB):c.63+53C>A	rs1800817	0.71464
NM_002608.4(PDGFB):c.457-186G>A	rs2239768	0.35972
NM_002608.4(PDGFB):c.602-206G>A	rs2285099	0.35854
NM_002608.4(PDGFB):c.601+65G>A	rs2239769	0.35675
NM_002608.4(PDGFB):c.161-80C>T	rs9622979	0.10236
NM_002608.4(PDGFB):c.160+15C>A	rs17303681	0.03571
NM_002608.4(PDGFB):c.250+22A>G	rs34438964	0.03052
NM_002608.4(PDGFB):c.453C>G (p.Val151=)	rs55634318	0.02038
NM_002608.4(PDGFB):c.602-41A>G	rs113656523	0.01862
NC_000022.11:g.39245256T>A	rs117688032	0.01709
NM_002608.4(PDGFB):c.*28+155T>C	rs112181258	0.01676
NM_002608.4(PDGFB):c.*28+121C>T	rs113867122	0.01672
NM_002608.4(PDGFB):c.602-244G>A	rs73163486	0.01664
NM_002608.4(PDGFB):c.657C>A (p.Pro219=)	rs35978693	0.01663
NM_002608.4(PDGFB):c.160+36G>C	rs74525460	0.01578
NM_002608.4(PDGFB):c.160+70A>G	rs116707415	0.01577
NM_002608.4(PDGFB):c.457-309C>T	rs117102928	0.01517
NM_002608.4(PDGFB):c.250+67C>T	rs36091905	0.01139
NM_002608.4(PDGFB):c.-132A>G	rs192942415	0.00690
NM_002608.4(PDGFB):c.63+3077T>A	rs143450333	0.00645
NM_002608.4(PDGFB):c.63+3053A>G	rs141135010	0.00538
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)	rs114786489	0.00422
NM_002608.4(PDGFB):c.262A>G (p.Ile88Val)	rs17565	0.00227
NM_002608.4(PDGFB):c.157G>A (p.Gly53Arg)	rs148252800	0.00152
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)	rs146468845	0.00093
NM_002608.4(PDGFB):c.296C>T (p.Thr99Met)	rs139127455	0.00055
NM_002608.4(PDGFB):c.35G>T (p.Cys12Phe)	rs201522786	0.00051
NM_002608.4(PDGFB):c.137G>A (p.Arg46His)	rs146223851	0.00023
NM_002608.4(PDGFB):c.647G>A (p.Arg216His)	rs371825684	0.00021
NM_002608.4(PDGFB):c.251-12G>A	rs374390669	0.00019
NM_002608.4(PDGFB):c.699G>A (p.Thr233=)	rs114397423	0.00007
NM_002608.4(PDGFB):c.393C>T (p.Ser131=)	rs141017878	0.00006
NM_002608.4(PDGFB):c.273G>A (p.Pro91=)	rs548805136	0.00004
NM_002608.4(PDGFB):c.572G>A (p.Arg191Gln)	rs776409973	0.00004
NM_002608.4(PDGFB):c.169G>A (p.Gly57Arg)	rs1165442073	0.00001
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	rs397515631	0.00001
NM_002608.4(PDGFB):c.512C>T (p.Thr171Met)	rs779509116	0.00001
NM_002608.4(PDGFB):c.558A>G (p.Ala186=)	rs377227741	0.00001
NM_002608.4(PDGFB):c.57C>T (p.Ser19=)	rs1300554096	0.00001
GRCh37/hg19 22q13.1(chr22:39629440-39639968)x1
NC_000022.11:g.39245088dup	rs899584600
NM_002608.4(PDGFB):c.*18TG[2]	rs35677215
NM_002608.4(PDGFB):c.-735G>A	rs1800818
NM_002608.4(PDGFB):c.-790TCGCAGC[2]	rs71326753
NM_002608.4(PDGFB):c.104A>G (p.Asp35Gly)
NM_002608.4(PDGFB):c.107A>G (p.His36Arg)
NM_002608.4(PDGFB):c.110C>T (p.Ser37Leu)
NM_002608.4(PDGFB):c.136C>T (p.Arg46Cys)
NM_002608.4(PDGFB):c.153C>T (p.Asp51=)
NM_002608.4(PDGFB):c.161-13A>G
NM_002608.4(PDGFB):c.161-15T>C
NM_002608.4(PDGFB):c.169G>C (p.Gly57Arg)	rs1165442073
NM_002608.4(PDGFB):c.178T>C (p.Leu60=)
NM_002608.4(PDGFB):c.17C>T (p.Ala6Val)
NM_002608.4(PDGFB):c.184C>G (p.Leu62Val)
NM_002608.4(PDGFB):c.18_19dup (p.Leu7fs)	rs2146459243
NM_002608.4(PDGFB):c.190A>G (p.Met64Val)
NM_002608.4(PDGFB):c.209G>A (p.Gly70Glu)	rs1267130671
NM_002608.4(PDGFB):c.213C>T (p.Gly71=)
NM_002608.4(PDGFB):c.232C>T (p.Arg78Cys)
NM_002608.4(PDGFB):c.240A>G (p.Arg80=)
NM_002608.4(PDGFB):c.250+111G>T	rs11704525
NM_002608.4(PDGFB):c.250+14A>T
NM_002608.4(PDGFB):c.251-20C>G
NM_002608.4(PDGFB):c.251-20C>T
NM_002608.4(PDGFB):c.251-7C>G
NM_002608.4(PDGFB):c.26T>G (p.Leu9Arg)
NM_002608.4(PDGFB):c.270G>A (p.Glu90=)
NM_002608.4(PDGFB):c.274G>T (p.Ala92Ser)
NM_002608.4(PDGFB):c.278T>C (p.Met93Thr)
NM_002608.4(PDGFB):c.285C>T (p.Ala95=)
NM_002608.4(PDGFB):c.289T>C (p.Cys97Arg)
NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)	rs1180781773
NM_002608.4(PDGFB):c.29C>T (p.Ser10Phe)
NM_002608.4(PDGFB):c.2T>G (p.Met1Arg)	rs1057520576
NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)
NM_002608.4(PDGFB):c.316A>G (p.Ile106Val)
NM_002608.4(PDGFB):c.328C>G (p.Leu110Val)	rs532811473
NM_002608.4(PDGFB):c.338G>A (p.Arg113His)
NM_002608.4(PDGFB):c.366G>A (p.Pro122=)
NM_002608.4(PDGFB):c.385C>T (p.Arg129Cys)
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	rs397515633
NM_002608.4(PDGFB):c.449C>T (p.Pro150Leu)
NM_002608.4(PDGFB):c.456+10C>T
NM_002608.4(PDGFB):c.456+15C>T
NM_002608.4(PDGFB):c.456+248C>A	rs115093500
NM_002608.4(PDGFB):c.456+4C>G
NM_002608.4(PDGFB):c.456+5G>A
NM_002608.4(PDGFB):c.457-142T>G	rs4821874
NM_002608.4(PDGFB):c.457-1G>C	rs1601596820
NM_002608.4(PDGFB):c.457-2A>G	rs2146436807
NM_002608.4(PDGFB):c.457G>A (p.Val153Met)	rs2146436799
NM_002608.4(PDGFB):c.478C>T (p.Arg160Trp)
NM_002608.4(PDGFB):c.490A>G (p.Ile164Val)
NM_002608.4(PDGFB):c.502G>T (p.Ala168Ser)	rs2146436704
NM_002608.4(PDGFB):c.512del (p.Thr171fs)
NM_002608.4(PDGFB):c.528G>A (p.Leu176=)
NM_002608.4(PDGFB):c.559C>T (p.Arg187Trp)
NM_002608.4(PDGFB):c.560G>A (p.Arg187Gln)
NM_002608.4(PDGFB):c.578C>T (p.Pro193Leu)
NM_002608.4(PDGFB):c.579G>A (p.Pro193=)
NM_002608.4(PDGFB):c.589C>T (p.Gln197Ter)
NM_002608.4(PDGFB):c.597G>T (p.Gln199His)
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	rs1932260742
NM_002608.4(PDGFB):c.599G>A (p.Arg200Gln)
NM_002608.4(PDGFB):c.603C>T (p.Ala201=)
NM_002608.4(PDGFB):c.614A>C (p.Gln205Pro)
NM_002608.4(PDGFB):c.620G>A (p.Arg207Gln)
NM_002608.4(PDGFB):c.63+10C>T
NM_002608.4(PDGFB):c.63+2987GA[12]	rs58537895
NM_002608.4(PDGFB):c.63+3048T>C
NM_002608.4(PDGFB):c.63+3320G>C	rs2857402
NM_002608.4(PDGFB):c.63+356C>G
NM_002608.4(PDGFB):c.63+424G>A
NM_002608.4(PDGFB):c.63+943_63+948dup
NM_002608.4(PDGFB):c.636G>T (p.Thr212=)
NM_002608.4(PDGFB):c.64-2817G>C
NM_002608.4(PDGFB):c.64-5G>A
NM_002608.4(PDGFB):c.64-84C>A	rs56180415
NM_002608.4(PDGFB):c.640C>G (p.Arg214Gly)
NM_002608.4(PDGFB):c.641G>A (p.Arg214Gln)
NM_002608.4(PDGFB):c.656C>T (p.Pro219Leu)
NM_002608.4(PDGFB):c.657C>T (p.Pro219=)
NM_002608.4(PDGFB):c.658A>C (p.Lys220Gln)
NM_002608.4(PDGFB):c.670_684del (p.Arg224_His228del)	rs2146429264
NM_002608.4(PDGFB):c.682C>A (p.His228Asn)
NM_002608.4(PDGFB):c.687G>A (p.Thr229=)
NM_002608.4(PDGFB):c.691G>T (p.Asp231Tyr)
NM_002608.4(PDGFB):c.700G>A (p.Ala234Thr)
NM_002608.4(PDGFB):c.703C>G (p.Leu235Val)
NM_002608.4(PDGFB):c.715C>G (p.Leu239Val)
NM_002608.4(PDGFB):c.724T>C (p.Ter242Gln)
NM_002608.4(PDGFB):c.725A>G (p.Ter242Trp)
NM_002608.4(PDGFB):c.88T>C (p.Tyr30His)

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