List of variants reported as uncertain significance for VACTERL with hydrocephalus by Fulgent Genetics, Fulgent Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003413.4(ZIC3):c.*260T>C	rs41299098	0.00074
NM_000314.8(PTEN):c.-666G>A	rs553371022	0.00069
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	rs200303151	0.00019
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	rs371387815	0.00009
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)	rs866138487	0.00004
NM_001126049.2(KLLN):c.-1039G>A	rs587779999	0.00004
NM_000314.8(PTEN):c.-765G>A	rs587776674	0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)	rs761346761	0.00002
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)	rs753030842	0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)	rs773313492	0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)	rs773221142	0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)	rs747819351	0.00001
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.910A>G (p.Ile304Val)	rs754238911	0.00001
NM_000314.6(PTEN):c.-868G>C	rs587782133
NM_000314.8(PTEN):c.-822G>T	rs587779993
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)	rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	rs587780007
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.1615T>C (p.Tyr539His)	rs2147391126
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)	rs144764663
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_001126049.2(KLLN):c.-736G>C	rs1554889801
NM_001126049.2(KLLN):c.-828C>T	rs786203674

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