ClinVar Miner

List of variants in gene NBAS reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319
NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) rs770446752
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) rs368196005
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185
NM_015909.4(NBAS):c.558_560del (p.Ile187del) rs796065037
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662

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