List of variants in gene FANCD2 studied for Fanconi anemia complementation group D2

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001018115.3(FANCD2):c.64+12G>C	rs9833228	0.02661
NM_001018115.3(FANCD2):c.3105+15C>T	rs460965	0.00770
NM_001018115.3(FANCD2):c.-6G>C	rs3732974	0.00227
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)	rs147426418	0.00031
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro)	rs150075366	0.00009
NM_001018115.3(FANCD2):c.-33-13G>A	rs113338938	0.00006
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu)	rs1479681259	0.00004
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
NM_001018115.1:c.1414_1545del
NM_001018115.3(FANCD2):c.2977-2A>G	rs1206160345
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)	rs2086516483
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)	rs1559399574
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val)	rs2086517367
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs)	rs1575723664
NM_001018115.3(FANCD2):c.64+2T>G	rs2124961184

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