ClinVar Miner

List of variants reported as likely benign for Carpenter syndrome 2 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=) rs775919574
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663

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