ClinVar Miner

List of variants reported as uncertain significance for Meier-Gorlin syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.*94C>T rs574908976 0.00141
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) rs139027440 0.00130
NM_004153.4(ORC1):c.1671C>T (p.Ala557=) rs61756137 0.00097
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) rs61756136 0.00066
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) rs61756139 0.00065
NM_004153.4(ORC1):c.1581A>G (p.Gly527=) rs141066689 0.00056
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg) rs144848215 0.00043
NM_004153.4(ORC1):c.2382G>A (p.Thr794=) rs146844078 0.00016
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) rs200773796 0.00010
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val) rs141749112 0.00008
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp) rs201805499 0.00006
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys) rs148581880 0.00006
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu) rs182707743 0.00004
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val) rs184915457 0.00004
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg) rs760479580 0.00003
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) rs376619175 0.00002
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser) rs370667339 0.00002
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln) rs886046397 0.00001
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr) rs886046396 0.00001
NM_004153.4(ORC1):c.2418C>T (p.Cys806=) rs1485646346 0.00001
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu) rs1222973227 0.00001
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp) rs767264406 0.00001
NM_004153.4(ORC1):c.387C>T (p.Ile129=) rs886046400 0.00001
NM_004153.4(ORC1):c.435G>A (p.Pro145=) rs886046398 0.00001
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr) rs753124340 0.00001
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys) rs1291867337 0.00001
NM_004153.4(ORC1):c.*226G>C rs886046395
NM_004153.4(ORC1):c.-178C>T rs1647890881
NM_004153.4(ORC1):c.-5-12A>T rs983776269
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val) rs1300402859
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu) rs576163345
NM_004153.4(ORC1):c.1284A>C (p.Thr428=) rs776642973
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2303+10T>C rs748117291
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) rs994616612

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