ClinVar Miner

List of variants reported as benign for Cornelia de Lange syndrome 2 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006306.4(SMC1A):c.2862+14C>T rs180705944 0.00044
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.2862+20G>A rs374473076 0.00017
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=) rs782367851 0.00015
NM_006306.4(SMC1A):c.1337+9C>T rs376455825 0.00014
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=) rs782123095 0.00008
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=) rs782008528 0.00006
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=) rs142531536 0.00004
NM_006306.4(SMC1A):c.3438-3C>T rs782161734 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.2058+9C>G rs1356800269 0.00003
NM_006306.4(SMC1A):c.2973+16_2973+17del rs782659050 0.00003
NM_006306.4(SMC1A):c.412-14T>G rs782106342 0.00003
NM_006306.4(SMC1A):c.174A>G (p.Val58=) rs200428075 0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00002
NM_006306.4(SMC1A):c.3285+4G>A rs1459975526 0.00001
NM_006306.4(SMC1A):c.3619-14C>T rs782732704 0.00001
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.816A>G (p.Lys272=) rs782455775 0.00001
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
NM_006306.4(SMC1A):c.1113+17del
NM_006306.4(SMC1A):c.1152G>A (p.Lys384=)
NM_006306.4(SMC1A):c.1546-11A>G
NM_006306.4(SMC1A):c.2421-15del
NM_006306.4(SMC1A):c.2421-15dup rs781926382
NM_006306.4(SMC1A):c.2563-7G>A
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn) rs2146593635
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
NM_006306.4(SMC1A):c.2863-14C>T
NM_006306.4(SMC1A):c.2973+11A>G
NM_006306.4(SMC1A):c.2973+18G>A rs782310979
NM_006306.4(SMC1A):c.3131-19C>T
NM_006306.4(SMC1A):c.3286-4del rs782700135
NM_006306.4(SMC1A):c.3508-15C>T
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg) rs2146605622
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.854+6_854+7del rs1569358983

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