List of variants in gene RAD21 reported as pathogenic for congenital limb malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NC_000008.11:g.(?_116857267)_(116863259_?)del
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)	rs387907212
NM_006265.3(RAD21):c.1161+1G>A	rs1563689416
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs)	rs1812376090
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)	rs1563688680
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)	rs748575266
NM_006265.3(RAD21):c.144+1G>A	rs1586275911
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs)	rs1812331711
NM_006265.3(RAD21):c.1550dup (p.Glu518fs)	rs1563687901
NM_006265.3(RAD21):c.1621-384_1704+199del
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)	rs387907213
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)	rs1563686762
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)	rs1554612096
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter)	rs1425483905
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter)	rs1554612093
NM_006265.3(RAD21):c.3G>A (p.Met1Ile)	rs1586276006
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter)	rs1812515682
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)	rs797045907
NM_006265.3(RAD21):c.579dup (p.Glu194fs)	rs797045908
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)	rs1352385210
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)	rs797045909
NM_006265.3(RAD21):c.593dup (p.Ser198fs)	rs2130469261
NM_006265.3(RAD21):c.683del (p.Ile228fs)
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)
NM_006265.3(RAD21):c.704del (p.Ser235fs)	rs1812478613
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs)	rs1812700165
NM_006265.3(RAD21):c.943_946del (p.Glu315fs)	rs2130463115

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