ClinVar Miner

List of variants in gene ORC1 studied for Meier-Gorlin syndrome 1

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_004153.4(ORC1):c.403-7A>C rs199834691 0.00197
NM_004153.4(ORC1):c.402+12C>T rs138085865 0.00193
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.2162G>A (p.Arg721Gln) rs142127656 0.00084
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.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) rs200773796 0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 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.1745A>G (p.Gln582Arg) rs547441862 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.2159G>A (p.Arg720Gln) rs387906828 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.217G>A (p.Glu73Lys) rs373671398 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.266T>C (p.Phe89Ser) rs387906827 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.934C>T (p.Pro312Ser) rs772037188 0.00001
NC_000001.11:g.52369378_52373625del
NM_004153.4(ORC1):c.*226G>C rs886046395
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.1482-2A>G rs1378348220
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg) rs1647126216
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_004153.4(ORC1):c.189G>T (p.Pro63=) rs201244952
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) rs1569920188
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504
NM_004153.4(ORC1):c.2193_2194del (p.Glu731fs)
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2303+10T>C rs748117291
NM_004153.4(ORC1):c.237del (p.Pro80fs) rs1647490038
NM_004153.4(ORC1):c.2405A>G (p.His802Arg) rs587780411
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) rs778980446
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.403-2A>C rs2147941262
NM_004153.4(ORC1):c.464T>C (p.Phe155Ser)
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
NM_004153.4(ORC1):c.688dup (p.Thr230fs)
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) rs994616612
NM_004153.4(ORC1):c.[2483C>T;2484del]

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