List of variants in gene RET reported as likely benign 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: 33

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.337+9G>A	rs2435351	0.20641
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)	rs1799939	0.16640
NM_020975.6(RET):c.*1969T>C	rs3026785	0.04255
NM_020975.6(RET):c.2508C>T (p.Ser836=)	rs1800862	0.03791
NM_020975.6(RET):c.1264-5C>T	rs9282835	0.02749
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	rs17158558	0.01567
NM_020975.6(RET):c.166C>A (p.Leu56Met)	rs145633958	0.00310
NM_020975.6(RET):c.*1812C>A	rs183817000	0.00220
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_020975.6(RET):c.*1130A>G	rs572936041	0.00112
NM_020975.6(RET):c.1119G>A (p.Ala373=)	rs113931414	0.00079
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)	rs9282834	0.00068
NM_020975.6(RET):c.833C>A (p.Thr278Asn)	rs35118262	0.00056
NM_020975.6(RET):c.225G>A (p.Thr75=)	rs151267865	0.00052
NM_020975.6(RET):c.*1644G>C	rs117119161	0.00043
NM_020975.6(RET):c.*1348G>A	rs149252070	0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	rs148935214	0.00039
NM_020975.6(RET):c.200G>A (p.Arg67His)	rs192489011	0.00036
NM_020975.6(RET):c.1158G>A (p.Ala386=)	rs373540097	0.00034
NM_020975.6(RET):c.2088G>A (p.Ser696=)	rs150329150	0.00024
NM_020975.6(RET):c.874G>A (p.Val292Met)	rs34682185	0.00023
NM_020975.6(RET):c.2052G>A (p.Pro684=)	rs145122337	0.00019
NM_020975.6(RET):c.1063+9G>A	rs765463636	0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)	rs147219360	0.00014
NM_020975.6(RET):c.597C>T (p.Asn199=)	rs55810667	0.00012
NM_020975.6(RET):c.1353G>T (p.Thr451=)	rs201568301	0.00010
NM_020975.6(RET):c.1879+13C>T	rs375573788	0.00008
NM_020975.6(RET):c.*1326T>C	rs141016377	0.00007
NM_020975.6(RET):c.2418C>T (p.Tyr806=)	rs553418132	0.00005
NM_020975.6(RET):c.3188-9C>T	rs551159582	0.00005
NM_020975.6(RET):c.*492G>C	rs568766449
NM_020975.6(RET):c.2393-14C>T	rs144269978
NM_020975.6(RET):c.487C>A (p.Arg163=)	rs371153966

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