ClinVar Miner

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

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Total variants: 15
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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.564-18dup rs776086128 0.00099
NM_003289.4(TPM2):c.563+17G>A rs201633747 0.00062
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_003289.4(TPM2):c.563+18T>A rs370352040 0.00001
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.375-12C>A
NM_003289.4(TPM2):c.564-19del rs3215700
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.564-6dup rs1439651784
NM_003289.4(TPM2):c.773-3del rs35401252
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_773-3dup rs35401252

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