ClinVar Miner

List of variants reported as likely benign for Arthrogryposis, distal, type 1A by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
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_564-19insT
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.773-5_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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