ClinVar Miner

List of variants studied for arthrogryposis syndrome by Suma Genomics

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) rs587776919 0.00001
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) rs746177326 0.00001
NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn) rs2131001227
NM_001164508.2(NEB):c.7519_7520del (p.Leu2507fs)
NM_002465.4(MYBPC1):c.288del (p.Gly97fs) rs778284790
NM_002470.4(MYH3):c.735T>G (p.Phe245Leu)
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_004826.4(ECEL1):c.1506G>C (p.Lys502Asn)
NM_004826.4(ECEL1):c.1819G>A (p.Gly607Ser)
NM_004826.4(ECEL1):c.1862G>A (p.Trp621Ter)
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)

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