ClinVar Miner

List of variants studied for Fanconi anemia, complementation group N by Leiden Open Variation Database

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Total variants: 6
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HGVS dbSNP
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NC_000016.10:g.(23626398_23629203)_(23638130_23641109)del
NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.3(PALB2):c.395del (p.Val132fs) rs180177085
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)

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