ClinVar Miner

List of variants reported as likely pathogenic for Aganglionic megacolon

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000001.11:g.243800225_243853502del
NC_000003.11:g.14406477_14509088dup
NC_000006.11:g.28005012_31683185del
NC_000010.10:g.49033586_52417694del
NC_000011.10:g.62483829_62531399dup
NC_000017.10:g.58076721_60362868del
NC_000022.10:g.18687210_19060954dup
NC_000022.10:g.18861209_21630630del
NM_002012.4(FHIT):c.103+32489_103+54184del
NM_021097.4(SLC8A1):c.1808+9112_1808+31346del

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