ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 3

Included ClinVar conditions (1):
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Total variants: 42
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HGVS dbSNP
NM_014321.4(ORC6):c.*10C>G
NM_014321.4(ORC6):c.*115T>G rs886052014
NM_014321.4(ORC6):c.*170C>G
NM_014321.4(ORC6):c.*217C>T rs143138864
NM_014321.4(ORC6):c.*232A>T rs531879095
NM_014321.4(ORC6):c.*307A>G rs547544453
NM_014321.4(ORC6):c.*363C>T rs768612856
NM_014321.4(ORC6):c.*452C>T
NM_014321.4(ORC6):c.*479G>A rs533502054
NM_014321.4(ORC6):c.*517G>A
NM_014321.4(ORC6):c.*524A>G
NM_014321.4(ORC6):c.*582A>C rs570114406
NM_014321.4(ORC6):c.*594A>G rs191163536
NM_014321.4(ORC6):c.*598G>A rs201605699
NM_014321.4(ORC6):c.*621T>C rs758041096
NM_014321.4(ORC6):c.*640G>A rs368055096
NM_014321.4(ORC6):c.-19T>C
NM_014321.4(ORC6):c.-20T>C rs33994299
NM_014321.4(ORC6):c.-47G>A rs144065502
NM_014321.4(ORC6):c.196-1G>A rs748927298
NM_014321.4(ORC6):c.199del (p.Tyr67fs) rs1567273817
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014321.4(ORC6):c.207T>G (p.Ile69Met) rs138076975
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121
NM_014321.4(ORC6):c.23G>T (p.Arg8Leu) rs754832466
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.27A>G (p.Leu9=)
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505
NM_014321.4(ORC6):c.32C>G (p.Pro11Arg)
NM_014321.4(ORC6):c.390A>T (p.Gln130His)
NM_014321.4(ORC6):c.413C>A (p.Pro138Gln) rs3218745
NM_014321.4(ORC6):c.430G>A (p.Ala144Thr)
NM_014321.4(ORC6):c.449+5G>A rs572314014
NM_014321.4(ORC6):c.450-4G>A rs886052013
NM_014321.4(ORC6):c.552G>A (p.Gln184=)
NM_014321.4(ORC6):c.556G>T (p.Val186Phe) rs368692007
NM_014321.4(ORC6):c.592C>T (p.Arg198Trp)
NM_014321.4(ORC6):c.598_601AGAA[1] (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511
NM_014321.4(ORC6):c.682C>G (p.Leu228Val)
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.96G>C (p.Arg32=) rs138213159

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