ClinVar Miner

List of variants studied for Fanconi anemia, complementation group N by OMIM

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Total variants: 5
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HGVS dbSNP
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
PALB2:c.49-?_2586+?del

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