ClinVar Miner

List of variants reported as benign for holoprosencephaly 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005413.4(SIX3):c.942A>G (p.Ala314=) rs338074 0.93956
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_005413.4(SIX3):c.720G>T (p.Ala240=) rs191012035 0.00185
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_005413.4(SIX3):c.369G>A (p.Glu123=) rs200331042 0.00088
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_005413.4(SIX3):c.306G>A (p.Thr102=) rs201451750 0.00024
NM_005413.4(SIX3):c.351G>A (p.Val117=) rs199742584 0.00009
NM_005413.4(SIX3):c.830C>A (p.Pro277Gln) rs575632344 0.00007
NM_005413.4(SIX3):c.105G>T (p.Gly35=) rs779034696 0.00004
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) rs555285206
NM_005413.4(SIX3):c.58G>T (p.Ala20Ser) rs200575650
NM_005413.4(SIX3):c.909G>C (p.Pro303=) rs560888073
SIX3:c.942G>A

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