List of variants in gene RET reported as likely pathogenic for Hirschsprung disease, susceptibility to, 1

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)	rs537874538	0.00004
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	rs143795581	0.00001
NM_020975.6(RET):c.2437C>T (p.Arg813Trp)	rs779996040	0.00001
NM_020975.6(RET):c.1438G>T (p.Glu480Ter)
NM_020975.6(RET):c.1522+1G>A
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)	rs1588872865
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)	rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg)	rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	rs77316810
NM_020975.6(RET):c.1879+1G>A	rs1588873476
NM_020975.6(RET):c.1880-2A>G	rs193922699
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
NM_020975.6(RET):c.2629G>C (p.Ala877Pro)	rs1838178869
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832
NM_020975.6(RET):c.440T>C (p.Phe147Ser)	rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu)	rs751572082
NM_020975.6(RET):c.860G>T (p.Arg287Leu)	rs1564491460
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	rs76764689

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