List of variants reported as pathogenic for uterine disorder by OMIM

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)	rs28756990	0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01412
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)	rs104895503	0.00048
NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp)	rs104895506	0.00026
NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs)	rs104895547	0.00007
NM_001127255.2(NLRP7):c.2471+1G>A	rs104895505	0.00005
NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg)	rs104895548	0.00003
NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln)	rs104895502	0.00003
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)	rs121964871	0.00002
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val)	rs606231235	0.00001
NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter)	rs104895530	0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro)	rs1449401018	0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)	rs749779829	0.00001
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	rs121913483
NM_000314.8(PTEN):c.253+1G>A	rs587776667
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	rs28934571
NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs)	rs606231286
NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs)	rs606231234
NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile)	rs606231233
NM_001040108.2(MLH3):c.885del (p.His296fs)	rs1431264077
NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser)	rs104895549
NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs)	rs104895554
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)	rs104895502
NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs)	rs104895553
NM_001127255.2(NLRP7):c.352+1G>A	rs104895504
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter)	rs779402951
NM_002439.5(MSH3):c.1148del (p.Lys383fs)	rs587776701
NM_152513.4(MEI1):c.1196+1G>A	rs1569203272
NM_152513.4(MEI1):c.2206del (p.Val736fs)	rs759915989

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