ClinVar Miner

List of variants studied for axial spondylometaphyseal dysplasia

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) rs922930539 0.00003
NM_004928.3(CFAP410):c.319T>C (p.Tyr107His) rs763623409 0.00002
NM_004928.3(CFAP410):c.331G>A (p.Val111Met) rs555164150 0.00002
NM_004928.3(CFAP410):c.545+1G>A rs778222701 0.00001
NM_004928.3(CFAP410):c.103del (p.Ile35fs) rs1114167893
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.642+2T>C rs2146057228
NM_004928.3(CFAP410):c.643-1G>C rs1602071514
NM_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004928.3(CFAP410):c.671T>C (p.Leu224Pro) rs1114167892

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