List of variants in gene combination LOC130003020, NOTCH1 reported as likely benign 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.45C>G (p.Pro15=)	rs764936481	0.00014
NM_017617.5(NOTCH1):c.61+7G>T	rs753396547	0.00005
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=)	rs1422526202	0.00001
NM_017617.5(NOTCH1):c.61+11A>G	rs1400816809	0.00001
NM_017617.5(NOTCH1):c.36G>T (p.Ala12=)	rs1843806561
NM_017617.5(NOTCH1):c.45C>T (p.Pro15=)	rs764936481
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=)	rs1478932209
NM_017617.5(NOTCH1):c.61+8C>T
NM_017617.5(NOTCH1):c.6G>A (p.Pro2=)	rs2133408666

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