List of variants in gene NOTCH1 studied for Heart, malformation of

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)	rs191645600	0.00061
NM_017617.5(NOTCH1):c.1810del (p.Ile604fs)	rs1589066272
NM_017617.5(NOTCH1):c.2014+1G>A	rs515726232
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His)	rs515726233
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs)	rs515726231

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