ClinVar Miner

List of variants reported as benign for holoprosencephaly 3 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.156789346C>T rs10949603 0.42022
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NC_000007.14:g.156779610T>C rs6970048 0.02533
NC_000007.14:g.156789579T>C rs77727105 0.02413
NC_000007.14:g.156769277A>G rs116462624 0.01443
NC_000007.14:g.156769402G>A rs73741533 0.01337
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01071
NC_000007.14:g.156791931A>G rs77295788 0.00872
NC_000007.14:g.156791921T>G rs78890432 0.00823
NM_022458.4(LMBR1):c.424-237A>G rs115905286 0.00677
NC_000007.14:g.156779444C>G rs188992894 0.00623
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NC_000007.14:g.156779628A>G rs150658639 0.00434
NC_000007.14:g.156789527T>G rs139601576 0.00384
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NC_000007.14:g.156769346A>C rs78118131 0.00229
NC_000007.14:g.156796278C>T rs114781898 0.00228
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NC_000007.14:g.156791884T>C rs76511713 0.00153
NC_000007.14:g.156796272T>C rs149671193 0.00152
NC_000007.14:g.156769398G>C rs76709606 0.00150
NC_000007.14:g.156779581C>T rs112621739 0.00128
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NC_000007.14:g.156789385T>C rs562537868 0.00077
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00076
NC_000007.14:g.156769273C>T rs546513589 0.00039
NC_000007.14:g.156764209G>A rs551831891 0.00033
NC_000007.14:g.156769446C>T rs185458314 0.00024
NM_000193.4(SHH):c.562+16C>A rs552346452 0.00015
NC_000007.14:g.156769416C>A rs1254818412 0.00010
NM_000193.4(SHH):c.1164T>C (p.Ala388=) rs941804591 0.00003
NM_000193.4(SHH):c.780G>A (p.Pro260=) rs767639456 0.00001
NC_000007.14:g.156769096C>T rs375863418
NC_000007.14:g.156769429del rs796519661
NC_000007.14:g.156779355C>T rs373709753
NC_000007.14:g.156779386A>T
NC_000007.14:g.156789388_156789391del rs533793951
NM_000193.4(SHH):c.301-18del rs747783200
NM_022458.4(LMBR1):c.424-218dup rs200856353

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