List of variants in gene CDT1 studied for CDT1-related disorder

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn)	rs146199695	0.00536
NM_030928.4(CDT1):c.292A>G (p.Ile98Val)	rs142692932	0.00432
NM_030928.4(CDT1):c.1221G>A (p.Pro407=)	rs74035838	0.00376
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)	rs145552478	0.00292
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)	rs141663679	0.00207
NM_030928.4(CDT1):c.900G>C (p.Gln300His)	rs143149360	0.00151
NM_030928.4(CDT1):c.1507T>G (p.Ser503Ala)	rs147828044	0.00140
NM_030928.4(CDT1):c.1123-4G>A	rs373938189	0.00137
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)	rs3218727	0.00125
NM_030928.4(CDT1):c.758G>A (p.Arg253His)	rs148337159	0.00086
NM_030928.4(CDT1):c.933+3G>A	rs146476365	0.00012
NM_030928.4(CDT1):c.1107C>T (p.Asn369=)	rs775639705	0.00005
NM_030928.4(CDT1):c.1023C>T (p.Pro341=)	rs200497384	0.00004
NM_030928.4(CDT1):c.732G>A (p.Pro244=)	rs372803781	0.00004
NM_030928.4(CDT1):c.1206C>T (p.Thr402=)	rs764245837	0.00002
NM_030928.4(CDT1):c.546G>A (p.Pro182=)	rs770311076	0.00001
NM_030928.4(CDT1):c.1276-7G>T	rs746440469

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