ClinVar Miner

List of variants studied for Chitayat syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.373+8C>T rs368794183 0.00001
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173

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