List of variants in gene FANCB studied for Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)	rs142304943	0.00046
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)	rs143976596	0.00035
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)	rs192743430	0.00025
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	rs200303151	0.00017
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)	rs373738816	0.00010
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)	rs201633684	0.00008
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)	rs199510538	0.00005
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)	rs143585647	0.00003
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)	rs761346761	0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)	rs1034395123	0.00002
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)	rs374217132	0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)	rs757610875	0.00001
NM_001018113.3(FANCB):c.1105-26TATT[4]	rs398123537
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)	rs2147425036
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)	rs776802337
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)	rs993307430
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)	rs773313492
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)	rs2147391126
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)	rs773221142
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)	rs964099207
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)	rs2147386189
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)	rs2147447239
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)	rs2092462570
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)	rs747819351
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)	rs746389250

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