List of variants in gene TPM2 reported as likely benign for congenital limb malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.773-4_773-3insA	rs1554658501	0.02101
NM_003289.4(TPM2):c.374+15C>T	rs773380766	0.00019
NM_003289.4(TPM2):c.633G>A (p.Ala211=)	rs199758432	0.00016
NM_003289.4(TPM2):c.846C>A (p.Thr282=)	rs148516241	0.00016
NM_003289.4(TPM2):c.18G>A (p.Lys6=)	rs144658309	0.00015
NM_003289.4(TPM2):c.773-19C>T	rs111370399	0.00009
NM_003289.4(TPM2):c.225G>A (p.Glu75=)	rs375762242	0.00006
NM_003289.4(TPM2):c.357G>A (p.Ala119=)	rs376028030	0.00006
NM_003289.4(TPM2):c.374+16G>A	rs769858878	0.00006
NM_003289.4(TPM2):c.666A>G (p.Glu222=)	rs567593410	0.00006
NM_003289.4(TPM2):c.564-18_564-17insA	rs1554658810	0.00005
NM_003289.4(TPM2):c.374+9G>C	rs200730708	0.00004
NM_003289.4(TPM2):c.773-10_773-9insG	rs780351083	0.00004
NM_003289.4(TPM2):c.241-7C>A	rs759898332	0.00003
NM_003289.4(TPM2):c.563+12C>T	rs185397376	0.00003
NM_003289.4(TPM2):c.564-19C>G	rs1374322376	0.00003
NM_003289.4(TPM2):c.618C>A (p.Ser206=)	rs370079073	0.00003
NM_003289.4(TPM2):c.234C>T (p.Ala78=)	rs749197310	0.00002
NM_003289.4(TPM2):c.399G>A (p.Arg133=)	rs370635046	0.00002
NM_003289.4(TPM2):c.450G>A (p.Glu150=)	rs775425326	0.00002
NM_003289.4(TPM2):c.639+10A>G	rs749160249	0.00002
NM_003289.4(TPM2):c.759C>T (p.Ile253=)	rs1057524292	0.00002
NM_003289.4(TPM2):c.114+9C>T	rs537297747	0.00001
NM_003289.4(TPM2):c.192G>A (p.Val64=)	rs1382163428	0.00001
NM_003289.4(TPM2):c.295C>T (p.Leu99=)	rs904588318	0.00001
NM_003289.4(TPM2):c.462C>T (p.Ile154=)	rs1294721413	0.00001
NM_003289.4(TPM2):c.492+9C>T	rs1037460279	0.00001
NM_003289.4(TPM2):c.493-10C>T	rs770755856	0.00001
NM_003289.4(TPM2):c.537G>A (p.Ser179=)	rs758819415	0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=)	rs746177794	0.00001
NM_003289.4(TPM2):c.563+13G>C	rs200644786	0.00001
NM_003289.4(TPM2):c.564-9C>T	rs763429317	0.00001
NM_003289.4(TPM2):c.588G>A (p.Glu196=)	rs777013950	0.00001
NM_003289.4(TPM2):c.640-15G>A	rs374069635	0.00001
NM_003289.4(TPM2):c.640-18dup	rs746703203	0.00001
NM_003289.4(TPM2):c.640-19G>A	rs1455692788	0.00001
NM_003289.4(TPM2):c.645C>T (p.Ser215=)	rs1231488023	0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=)	rs201215303	0.00001
NM_003289.4(TPM2):c.114+10G>A	rs1416639797
NM_003289.4(TPM2):c.115-14C>A
NM_003289.4(TPM2):c.115-16G>A
NM_003289.4(TPM2):c.115-5C>T	rs1587966246
NM_003289.4(TPM2):c.180T>C (p.Tyr60=)	rs1281970248
NM_003289.4(TPM2):c.189C>T (p.Ser63=)
NM_003289.4(TPM2):c.240+15G>T
NM_003289.4(TPM2):c.241-14C>T
NM_003289.4(TPM2):c.241-5C>T	rs372898802
NM_003289.4(TPM2):c.306C>T (p.Ala102=)
NM_003289.4(TPM2):c.318G>A (p.Leu106=)	rs2131853365
NM_003289.4(TPM2):c.374+16G>C
NM_003289.4(TPM2):c.375-11C>T
NM_003289.4(TPM2):c.375-13C>T
NM_003289.4(TPM2):c.375-15C>T	rs2131852823
NM_003289.4(TPM2):c.426A>G (p.Glu142=)	rs374856808
NM_003289.4(TPM2):c.432G>A (p.Gln144=)
NM_003289.4(TPM2):c.493-11_493-8del	rs528068364
NM_003289.4(TPM2):c.493-7C>T	rs1554658928
NM_003289.4(TPM2):c.507G>A (p.Leu169=)
NM_003289.4(TPM2):c.555G>A (p.Val185=)	rs1587957884
NM_003289.4(TPM2):c.563+13G>A
NM_003289.4(TPM2):c.563+13G>T
NM_003289.4(TPM2):c.564-18G>C	rs756207778
NM_003289.4(TPM2):c.564-19C>T
NM_003289.4(TPM2):c.564-19_564-18insT
NM_003289.4(TPM2):c.564-20C>T
NM_003289.4(TPM2):c.564-20_564-19dup	rs3215700
NM_003289.4(TPM2):c.564-20_564-19insT
NM_003289.4(TPM2):c.589C>T (p.Leu197=)	rs2131849835
NM_003289.4(TPM2):c.619C>T (p.Leu207=)
NM_003289.4(TPM2):c.627C>G (p.Ala209=)	rs2131849764
NM_003289.4(TPM2):c.639+16G>A
NM_003289.4(TPM2):c.640-17G>C
NM_003289.4(TPM2):c.640-19GT[6]	rs1824762591
NM_003289.4(TPM2):c.640-20C>A
NM_003289.4(TPM2):c.640-9C>T	rs1661588104
NM_003289.4(TPM2):c.663T>C (p.Tyr221=)	rs1465836003
NM_003289.4(TPM2):c.669G>A (p.Glu223=)	rs148003612
NM_003289.4(TPM2):c.66C>G (p.Ala22=)
NM_003289.4(TPM2):c.672G>A (p.Glu224=)
NM_003289.4(TPM2):c.69G>A (p.Glu23=)	rs2131865690
NM_003289.4(TPM2):c.702+17A>C
NM_003289.4(TPM2):c.703-3dup	rs1554658707
NM_003289.4(TPM2):c.703-5C>T
NM_003289.4(TPM2):c.703-9T>C	rs2131848760
NM_003289.4(TPM2):c.729G>A (p.Glu243=)	rs751675623
NM_003289.4(TPM2):c.735T>A (p.Ser245=)
NM_003289.4(TPM2):c.747G>A (p.Leu249=)	rs1431432489
NM_003289.4(TPM2):c.75C>T (p.Ala25=)
NM_003289.4(TPM2):c.773-10_773-9insCG	rs1554658504
NM_003289.4(TPM2):c.773-11dup
NM_003289.4(TPM2):c.773-15C>T
NM_003289.4(TPM2):c.773-3dup	rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup	rs35401252
NM_003289.4(TPM2):c.773-5_773-4insT
NM_003289.4(TPM2):c.773-7_773-6insCG
NM_003289.4(TPM2):c.773-9C>A
NM_003289.4(TPM2):c.773-9_773-8insA	rs756328776
NM_003289.4(TPM2):c.773-9_773-8insCA	rs1554658503
NM_003289.4(TPM2):c.773-9_773-8insG	rs756328776
NM_003289.4(TPM2):c.816G>A (p.Glu272=)
NM_003289.4(TPM2):c.81C>A (p.Ala27=)	rs564977715
NM_003289.4(TPM2):c.81C>T (p.Ala27=)	rs564977715

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