List of variants in gene ANK1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter)	rs750820522	0.00001
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter)	rs2150641057
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs)	rs397514029
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter)	rs1825406258
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter)	rs1563502820
NM_000037.4(ANK1):c.2102del (p.Gly701fs)	rs2150612978
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter)	rs747701761
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2389-1G>A	rs1822828039
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)	rs2150597061
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs)	rs1820512673
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3275del (p.Gln1092fs)	rs2150593275
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter)	rs1586145051
NM_000037.4(ANK1):c.3984+1G>T
NM_000037.4(ANK1):c.3984+2T>C	rs1818974494
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)	rs2150661792
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	rs1586072383
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs)	rs2150548107
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)	rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter)	rs2150651762

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