ClinVar Miner

List of variants reported as uncertain significance for arthrogryposis, distal, type 1A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00020
NM_213674.1(TPM2):c.-158C>A rs886063907 0.00014
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_003289.4(TPM2):c.*99A>G rs879505630 0.00007
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.*199C>T rs965743785 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) rs1369077598
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) rs1419786293
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266

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