ClinVar Miner

List of variants in gene SHH reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00085
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_000193.4(SHH):c.330C>T (p.Ala110=) rs552960040 0.00005
NM_000193.4(SHH):c.989C>T (p.Ala330Val) rs886043421 0.00003
NM_000193.4(SHH):c.1102G>A (p.Glu368Lys) rs753315599 0.00002
NM_000193.4(SHH):c.271A>G (p.Asn91Asp) rs750835058 0.00001
NM_000193.4(SHH):c.750G>A (p.Lys250=) rs779670631 0.00001
NM_000193.4(SHH):c.972C>T (p.Asp324=) rs765693103 0.00001
NM_000193.4(SHH):c.1018G>T (p.Glu340Ter) rs1563198990
NM_000193.4(SHH):c.1040C>G (p.Pro347Arg) rs886042458
NM_000193.4(SHH):c.1272G>A (p.Pro424=) rs1563198679
NM_000193.4(SHH):c.276C>A (p.Thr92=) rs1008384764
NM_000193.4(SHH):c.853C>T (p.Pro285Ser) rs747668656

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