List of variants in gene PAFAH1B1 studied for Lissencephaly/Subcortical Band Heterotopia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000430.4(PAFAH1B1):c.3627_3628del	rs58458769	0.11607
NM_000430.4(PAFAH1B1):c.1042_1043del	rs55976318	0.00373
NM_000430.4(PAFAH1B1):c.*1056C>T	rs760380019	0.00002
NM_000430.4(PAFAH1B1):c.*1519AG[2]	rs886052721
NM_000430.4(PAFAH1B1):c.1934_1935del	rs149797541
NM_000430.4(PAFAH1B1):c.*3331dup	rs886052730
NM_000430.4(PAFAH1B1):c.*532G>A	rs886052716
NM_000430.4(PAFAH1B1):c.-176del	rs886052711
NM_000430.4(PAFAH1B1):c.-534_-529dup	rs538397985
NM_000430.4(PAFAH1B1):c.900+11dup	rs886052713

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