ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 8

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006912.6(RIT1):c.231T>C (p.Ala77=) rs144170253 0.00004
NM_006912.6(RIT1):c.291C>A (p.Ile97=) rs377326705 0.00004
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006912.6(RIT1):c.498A>C (p.Ala166=) rs375734733 0.00003
NM_006912.6(RIT1):c.106+10A>G rs781557110 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006912.6(RIT1):c.163+12C>A rs372092063 0.00001
NM_006912.6(RIT1):c.164-11C>T rs960250196 0.00001
NM_006912.6(RIT1):c.237+14G>C rs772575179 0.00001
NM_006912.6(RIT1):c.238-19G>A rs753538357 0.00001
NM_006912.6(RIT1):c.252C>T (p.Ala84=) rs758393035 0.00001
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790 0.00001
NM_006912.6(RIT1):c.423A>G (p.Leu141=) rs763445246 0.00001
NM_006912.6(RIT1):c.510T>C (p.Tyr170=) rs765624804 0.00001
NM_006912.6(RIT1):c.516T>C (p.Asp172=) rs148764677 0.00001
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767 0.00001
NM_006912.6(RIT1):c.564G>A (p.Glu188=) rs1157330685 0.00001
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410 0.00001
NM_006912.6(RIT1):c.603C>T (p.Asn201=) rs367886540 0.00001
NM_006912.6(RIT1):c.99G>A (p.Gly33=) rs199914900 0.00001
NM_006912.6(RIT1):c.107-12C>T
NM_006912.6(RIT1):c.107-13_107-10del
NM_006912.6(RIT1):c.107-6T>G
NM_006912.6(RIT1):c.107-9C>A
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
NM_006912.6(RIT1):c.156C>T (p.Pro52=) rs1571999270
NM_006912.6(RIT1):c.163+10A>G
NM_006912.6(RIT1):c.163+12C>T
NM_006912.6(RIT1):c.163+16A>C
NM_006912.6(RIT1):c.163+17C>G
NM_006912.6(RIT1):c.164-18C>G
NM_006912.6(RIT1):c.164-27_164-17dup
NM_006912.6(RIT1):c.164-5T>C
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
NM_006912.6(RIT1):c.237+11C>A
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.237+18G>A
NM_006912.6(RIT1):c.237+19T>A
NM_006912.6(RIT1):c.237+9T>C
NM_006912.6(RIT1):c.238-16C>T rs763494925
NM_006912.6(RIT1):c.238-9T>A
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
NM_006912.6(RIT1):c.321T>C (p.Ser107=) rs2102584781
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
NM_006912.6(RIT1):c.381A>C (p.Thr127=) rs1206873288
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
NM_006912.6(RIT1):c.387G>A (p.Val129=)
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
NM_006912.6(RIT1):c.429+15G>A
NM_006912.6(RIT1):c.429+20T>C rs2102584651
NM_006912.6(RIT1):c.429+9A>G
NM_006912.6(RIT1):c.430-16C>T
NM_006912.6(RIT1):c.430-18C>A
NM_006912.6(RIT1):c.430-18C>T
NM_006912.6(RIT1):c.430-5T>C rs1571991209
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
NM_006912.6(RIT1):c.492T>C (p.Ser164=) rs2102581097
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
NM_006912.6(RIT1):c.552G>A (p.Arg184=) rs1673290776
NM_006912.6(RIT1):c.570A>G (p.Val190=)
NM_006912.6(RIT1):c.609A>G (p.Val203=)
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
NM_006912.6(RIT1):c.72A>G (p.Leu24=) rs770237120
NM_006912.6(RIT1):c.93T>C (p.Gly31=)

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