ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome by Invitae

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905

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