ClinVar Miner

List of variants in gene OFD1 reported as likely pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.1220_1221+1del
NM_003611.3(OFD1):c.1221_1221+13del rs2147016815
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2388-1G>A
NM_003611.3(OFD1):c.2600-5_2600del
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.935+1G>C

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