ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_004153.4(ORC1):c.*226G>C rs886046395
NM_004153.4(ORC1):c.*231C>T rs3087471
NM_004153.4(ORC1):c.*94C>T rs574908976
NM_004153.4(ORC1):c.-178C>T
NM_004153.4(ORC1):c.-5-12A>T
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu) rs576163345
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)
NM_004153.4(ORC1):c.1284A>C (p.Thr428=) rs776642973
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) rs61756136
NM_004153.4(ORC1):c.1383T>C (p.Ser461=)
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg) rs144848215
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln) rs886046397
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu)
NM_004153.4(ORC1):c.1584-4C>G rs114617697
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)
NM_004153.4(ORC1):c.1671C>T (p.Ala557=) rs61756137
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) rs376619175
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) rs139027440
NM_004153.4(ORC1):c.189G>T (p.Pro63=)
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009
NM_004153.4(ORC1):c.2303+10T>C
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389
NM_004153.4(ORC1):c.2382G>A (p.Thr794=) rs146844078
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr) rs886046396
NM_004153.4(ORC1):c.2418C>T (p.Cys806=)
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) rs61756139
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689
NM_004153.4(ORC1):c.387C>T (p.Ile129=) rs886046400
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.402+12C>T
NM_004153.4(ORC1):c.403-7A>C rs199834691
NM_004153.4(ORC1):c.435G>A (p.Pro145=) rs886046398
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr) rs753124340
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys)
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile)

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