ClinVar Miner

List of variants reported as likely benign for Short-rib thoracic dysplasia 13 with or without polydactyly

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001375405.1(CEP120):c.1431-7A>T rs63388160 0.04585
NM_001375405.1(CEP120):c.1431-12_1431-9del rs769322546 0.04498
NM_001375405.1(CEP120):c.1431-13_1431-9del rs772770081 0.03054
NM_001375405.1(CEP120):c.1431-8A>T rs761915664 0.02985
NM_001375405.1(CEP120):c.2104-13_2104-12insTA rs749949328 0.00302
NM_001375405.1(CEP120):c.28A>G (p.Ile10Val) rs199793672 0.00096
NM_001375405.1(CEP120):c.2580+6T>G rs200418811 0.00062
NM_001375405.1(CEP120):c.1074G>A (p.Glu358=) rs199843371 0.00035
NM_001375405.1(CEP120):c.1574T>C (p.Phe525Ser) rs567550166 0.00032
NM_001375405.1(CEP120):c.27C>T (p.Leu9=) rs111851376 0.00028
NM_001375405.1(CEP120):c.2187G>A (p.Val729=) rs192078531 0.00025
NM_001375405.1(CEP120):c.2104-12dup rs759878384 0.00023
NM_001375405.1(CEP120):c.2013+14T>C rs546872053 0.00021
NM_001375405.1(CEP120):c.340T>C (p.Leu114=) rs199922403 0.00019
NM_001375405.1(CEP120):c.402C>T (p.Thr134=) rs143893793 0.00015
NM_001375405.1(CEP120):c.1038+20C>T rs368172739 0.00009
NM_001375405.1(CEP120):c.1431-12T>A rs1224838538 0.00008
NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn) rs777235472 0.00007
NM_001375405.1(CEP120):c.2925C>T (p.Ile975=) rs147730520 0.00006
NM_001375405.1(CEP120):c.2103+7A>G rs764744920 0.00005
NM_001375405.1(CEP120):c.2104-13T>A rs779904226 0.00004
NM_001375405.1(CEP120):c.2358+18T>C rs201232590 0.00004
NM_001375405.1(CEP120):c.2359-8T>A rs570367630 0.00004
NM_001375405.1(CEP120):c.2799T>C (p.His933=) rs775237242 0.00004
NM_001375405.1(CEP120):c.2889C>T (p.His963=) rs142459804 0.00004
NM_001375405.1(CEP120):c.963T>C (p.Leu321=) rs201148622 0.00004
NM_001375405.1(CEP120):c.1113G>A (p.Lys371=) rs375230630 0.00003
NM_001375405.1(CEP120):c.177A>G (p.Glu59=) rs376374734 0.00003
NM_001375405.1(CEP120):c.210A>G (p.Leu70=) rs554875614 0.00002
NM_001375405.1(CEP120):c.42C>T (p.Ile14=) rs374059490 0.00002
NM_001375405.1(CEP120):c.1002G>A (p.Val334=) rs753263238 0.00001
NM_001375405.1(CEP120):c.108A>C (p.Gly36=) rs1289971154 0.00001
NM_001375405.1(CEP120):c.1488A>G (p.Glu496=) rs1772033397 0.00001
NM_001375405.1(CEP120):c.1580+14T>C rs1772025870 0.00001
NM_001375405.1(CEP120):c.1763+7C>T rs375098616 0.00001
NM_001375405.1(CEP120):c.2014-20T>A rs1412278670 0.00001
NM_001375405.1(CEP120):c.2220G>T (p.Leu740=) rs750757836 0.00001
NM_001375405.1(CEP120):c.2358+11G>A rs778675981 0.00001
NM_001375405.1(CEP120):c.2358+8A>C rs781621962 0.00001
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His) rs771132137 0.00001
NM_001375405.1(CEP120):c.2736A>G (p.Gln912=) rs758997502 0.00001
NM_001375405.1(CEP120):c.49+19G>A rs1774813689 0.00001
NM_001375405.1(CEP120):c.50-12C>T rs755652817 0.00001
NM_001375405.1(CEP120):c.604T>C (p.Leu202=) rs1220874723 0.00001
NM_001375405.1(CEP120):c.765T>C (p.Ser255=) rs1399621575 0.00001
NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)
NM_001375405.1(CEP120):c.1038+13C>T
NM_001375405.1(CEP120):c.1038+18T>A
NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)
NM_001375405.1(CEP120):c.1122A>G (p.Thr374=) rs372737011
NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)
NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)
NM_001375405.1(CEP120):c.1167C>T (p.His389=) rs2127068247
NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)
NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)
NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)
NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)
NM_001375405.1(CEP120):c.1430+7T>C
NM_001375405.1(CEP120):c.1431-11T>A
NM_001375405.1(CEP120):c.1431-15_1431-9del
NM_001375405.1(CEP120):c.1431-21_1431-10del
NM_001375405.1(CEP120):c.1431-4C>T
NM_001375405.1(CEP120):c.1431-9_1431-6del rs1403821471
NM_001375405.1(CEP120):c.1431-9_1431-7del
NM_001375405.1(CEP120):c.1431-9_1431-8insT
NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)
NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)
NM_001375405.1(CEP120):c.1580+11_1580+12dup
NM_001375405.1(CEP120):c.1581-6C>T
NM_001375405.1(CEP120):c.1584T>C (p.Ile528=) rs1223191516
NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)
NM_001375405.1(CEP120):c.162T>C (p.Thr54=)
NM_001375405.1(CEP120):c.1683A>G (p.Lys561=)
NM_001375405.1(CEP120):c.171T>C (p.Ala57=)
NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)
NM_001375405.1(CEP120):c.1763+13A>C rs2127055694
NM_001375405.1(CEP120):c.1763+15A>C
NM_001375405.1(CEP120):c.1764-9T>C
NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)
NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)
NM_001375405.1(CEP120):c.1821A>G (p.Leu607=)
NM_001375405.1(CEP120):c.1860+13G>A
NM_001375405.1(CEP120):c.1861-12T>C
NM_001375405.1(CEP120):c.1861-17T>A rs2127049914
NM_001375405.1(CEP120):c.1861-17T>C rs2127049914
NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)
NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)
NM_001375405.1(CEP120):c.192G>T (p.Ala64=)
NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)
NM_001375405.1(CEP120):c.2014-13C>G rs1228982030
NM_001375405.1(CEP120):c.2022G>A (p.Gln674=)
NM_001375405.1(CEP120):c.207-12G>C
NM_001375405.1(CEP120):c.207-14_207-13del
NM_001375405.1(CEP120):c.207-19A>C
NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)
NM_001375405.1(CEP120):c.2088A>T (p.Ser696=) rs761862745
NM_001375405.1(CEP120):c.2103+13G>A
NM_001375405.1(CEP120):c.2103+20T>G
NM_001375405.1(CEP120):c.2103+20_2103+23del rs2127047195
NM_001375405.1(CEP120):c.2104-12A>G rs1235912647
NM_001375405.1(CEP120):c.2104-15T>G
NM_001375405.1(CEP120):c.2104-15_2104-14insG
NM_001375405.1(CEP120):c.2104-9A>G
NM_001375405.1(CEP120):c.213G>A (p.Gln71=)
NM_001375405.1(CEP120):c.2160G>A (p.Glu720=) rs891338561
NM_001375405.1(CEP120):c.2196+11C>T
NM_001375405.1(CEP120):c.2196+8A>G
NM_001375405.1(CEP120):c.2197-10T>G
NM_001375405.1(CEP120):c.2197-8G>T
NM_001375405.1(CEP120):c.2302C>T (p.Leu768=)
NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)
NM_001375405.1(CEP120):c.234A>G (p.Gln78=)
NM_001375405.1(CEP120):c.2358+10C>T
NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)
NM_001375405.1(CEP120):c.2444G>A (p.Arg815His) rs142792779
NM_001375405.1(CEP120):c.2481+20G>T
NM_001375405.1(CEP120):c.2482-20A>G rs1226218781
NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)
NM_001375405.1(CEP120):c.2581-16C>A
NM_001375405.1(CEP120):c.2581-16_2581-13del rs1386199029
NM_001375405.1(CEP120):c.2726+13A>G
NM_001375405.1(CEP120):c.2726+16G>T
NM_001375405.1(CEP120):c.2726+19T>C
NM_001375405.1(CEP120):c.2726+20T>C
NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)
NM_001375405.1(CEP120):c.285C>T (p.Ile95=)
NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)
NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)
NM_001375405.1(CEP120):c.303C>T (p.Thr101=)
NM_001375405.1(CEP120):c.464-18G>A
NM_001375405.1(CEP120):c.464-19C>A rs776387918
NM_001375405.1(CEP120):c.464-9T>C
NM_001375405.1(CEP120):c.49+9C>T rs774559516
NM_001375405.1(CEP120):c.50-10G>C
NM_001375405.1(CEP120):c.50-17A>G
NM_001375405.1(CEP120):c.528C>T (p.Gly176=)
NM_001375405.1(CEP120):c.60C>T (p.Phe20=)
NM_001375405.1(CEP120):c.613-7T>C
NM_001375405.1(CEP120):c.621A>G (p.Pro207=) rs754583755
NM_001375405.1(CEP120):c.621A>T (p.Pro207=)
NM_001375405.1(CEP120):c.672T>C (p.Ser224=)
NM_001375405.1(CEP120):c.811-14C>G
NM_001375405.1(CEP120):c.882C>T (p.Gly294=)

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