ClinVar Miner

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

Included ClinVar conditions (962):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NC_000012.12:g.(?_109561020)_(109565196_?)del
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.4(MMAB):c.577_578GA[2] (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.658_659CT[1] (p.Phe221fs) rs1383825118

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