ClinVar Miner

List of variants studied for congenital limb malformation by Breda Genetics srl

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala) rs1751146734
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_182961.4(SYNE1):c.6724-3C>T

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