List of variants in gene HNRNPK reported as likely pathogenic for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_031263.4(HNRNPK):c.1109-3C>G	rs2133020130
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly)	rs2133020093
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp)	rs1588412390
NM_031263.4(HNRNPK):c.1191+2T>G
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys)	rs2133014993
NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln)	rs1588434457
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg)	rs1588432187
NM_031263.4(HNRNPK):c.213+2dup
NM_031263.4(HNRNPK):c.214-35A>G	rs1554700718
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	rs1554700678
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	rs863223403
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter)	rs2133042086
NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs)
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)
NM_031263.4(HNRNPK):c.517-7_521del
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly)
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)
NM_031263.4(HNRNPK):c.645+1G>T	rs1956915416
NM_031263.4(HNRNPK):c.646-1G>A	rs1564062144

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