List of variants in gene CASQ2, VANGL1 studied for Caudal regression sequence

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.*632G>C	rs1140238	0.65651
NM_001232.4(CASQ2):c.*482C>T	rs7521023	0.63558
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)	rs7413162	0.39681
NM_001232.4(CASQ2):c.1123_1124del	rs56839330	0.23414
NM_001232.4(CASQ2):c.*138T>C	rs28730710	0.10658
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)	rs28730711	0.04871
NM_001232.4(CASQ2):c.1014+9C>T	rs77775029	0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)	rs28730712	0.02116
NM_001232.4(CASQ2):c.*143G>A	rs28730709	0.00217
NM_001232.4(CASQ2):c.*1017del	rs11347859
NM_138959.3(VANGL1):c.*6763dup	rs5777244

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