ClinVar Miner

List of variants in gene ABAT reported as uncertain significance for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) rs140119176 0.00042
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln) rs187929750 0.00006
NM_020686.6(ABAT):c.190A>G (p.Ile64Val) rs756209600 0.00006
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) rs775339966 0.00003
NM_020686.6(ABAT):c.678G>A (p.Ala226=) rs112564762 0.00003
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr) rs750911984 0.00002
NM_020686.6(ABAT):c.486C>T (p.Ala162=) rs763045532 0.00002
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu) rs903906856 0.00001
NM_020686.6(ABAT):c.169-6C>T rs758166055 0.00001
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg) rs144238624 0.00001
NM_020686.6(ABAT):c.587C>T (p.Thr196Met) rs546024063 0.00001
GRCh37/hg19 16p13.2(chr16:8741774-8798255)x1
GRCh37/hg19 16p13.2(chr16:8766187-8822840)x3
GRCh37/hg19 16p13.2(chr16:8772316-8836090)x3
NM_020686.6(ABAT):c.110T>G (p.Val37Gly) rs373781844
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile) rs1390975236
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) rs1057523345
NM_020686.6(ABAT):c.1417C>T (p.Arg473Cys)
NM_020686.6(ABAT):c.1453G>A (p.Ala485Thr)
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?) rs756457894
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro) rs2059320233
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) rs374113959
NM_020686.6(ABAT):c.616C>T (p.Pro206Ser) rs2142971411
NM_020686.6(ABAT):c.678G>C (p.Ala226=) rs112564762
NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn) rs886043117

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