ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 1 by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile) rs397514753
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) rs886039806
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) rs886039804
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg) rs730882233
NM_024715.3(TXNDC15):c.103+1G>A rs886039792
NM_024715.3(TXNDC15):c.673_687del (p.Ser225_His229del) rs886039791
NM_024790.6(CSPP1):c.2244_2247del (p.Glu750fs) rs587777145
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) rs886039793
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup) rs730882232

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