ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003504.5(CDC45):c.1487C>T (p.Pro496Leu) rs1376596361 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.142C>G (p.His48Asp) rs2103276319
NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)
NM_003108.4(SOX11):c.425C>G (p.Ala142Gly)
NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)
NM_003504.5(CDC45):c.791C>A (p.Ser264Tyr) rs151279621
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451

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